Is G6PD p.Val271= (c.813G>A) pathogenic?

G6PD p.Val271= (c.813G>A) is classified Likely benign in G6PD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-10-08). Ultra-rare (popmax 0.0316%, sas); Associated with anemia, nonspherocytic hemolytic, due to G6PD deficiency.

What condition is associated with G6PD p.Val271= (c.813G>A)?

G6PD p.Val271= (c.813G>A) is associated with anemia, nonspherocytic hemolytic, due to G6PD deficiency (ClinVar).

How common is G6PD p.Val271= (c.813G>A) in the general population?

G6PD p.Val271= (c.813G>A) is ultra-rare (popmax 0.0316%, sas) (gnomAD).

G6PD p.Val271=

Q: How is Class I glucose-6-phosphate dehydrogenase deficiency inherited?

Typically X-linked recessive (Orphanet). A genetic counselor can assess individual risk for a family.

c.813G>A · rs782732134 · VCV850954

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0316%, sas)

Conditions

anemia, nonspherocytic hemolytic, due to G6PD deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.52	GERP 1.7, phastCons 0.024
Overall
CADD	9.585	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0316% South Asian · 18/56,931 alleles

Filtering AF 0.0204% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0168%

Overall 0.00223% 27/1,210,810 alleles · ultra-rare exomes 23/1,098,218 · genomes 4/112,592 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0316%	3,163
African / African-American	0.0139%	7,173
Remaining individualsnot grpmax-eligible	0.0021%	47,606

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: G6PD
Protein: p.Val271=
Coding: c.813G>A
MANE Select: NM_001360016
dbSNP: rs782732134
Type: single nucleotide variant
Location: chrX:154533627 (GRCh38)
Structure: AlphaFold pLDDT 94.54 · 25 PDB
Residue 271: an α-helix

Full G6PD gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

anemia, nonspherocytic hemolytic, due to G6PD deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Class I glucose-6-phosphate dehydrogenase deficiency (Orphanet):

Inheritance: X-linked recessive
Onset: Neonatal
Prevalence: <1 / 1 000 000 (Worldwide)

Similar variants

G6PD p.Val271Leu Likely pathogenic ★ ⚠ same residue
G6PD p.Val271Met Uncertain significance ★ ⚠ same residue
G6PD p.Ala335Asp Pathogenic/Likely pathogenic ★★ ⚠ same condition
G6PD p.Ala365Thr Pathogenic ★★ ⚠ same condition
G6PD p.Ala391Val Likely pathogenic ★★ same condition
G6PD p.Ala44Thr Pathogenic ★★ ⚠ same condition
G6PD p.Ala74Gly Pathogenic/Likely pathogenic ★★ same condition
G6PD p.Arg136Cys Pathogenic/Likely pathogenic ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/g6pd-p-val271 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown