Is G6PD p.Pro477= (c.1431C>T) pathogenic?

G6PD p.Pro477= (c.1431C>T) is classified Benign/Likely benign in G6PD (ClinVar, Multiple submitters, 11 submitters; last evaluated 2026-02-03). Common (popmax 8.24%, afr) — too common for a highly-penetrant pathogenic allele; Associated with G6PD deficiency.

What condition is associated with G6PD p.Pro477= (c.1431C>T)?

G6PD p.Pro477= (c.1431C>T) is associated with G6PD deficiency, anemia, nonspherocytic hemolytic, due to G6PD deficiency (ClinVar).

G6PD p.Pro477=

Q: How common is G6PD p.Pro477= (c.1431C>T) in the general population?

G6PD p.Pro477= (c.1431C>T) is common (popmax 8.24%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.1431C>T · rs77214077 · VCV93496

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 11 submitters

gnomAD v4.1

Common

common (popmax 8.24%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

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 -1.7	GERP -3.4
Overall
CADD	1.651	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 8.24% African / African-American · 4,700/57,023 alleles

Filtering AF 8.05% ClinGen BA1/BS1 input FAF95, joint · FAF99 7.97%

Overall 0.43% 5,201/1,209,236 alleles · common exomes 2,702/1,097,908 · genomes 2,499/111,328 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	8.24%	12
Remaining individualsnot grpmax-eligible	0.542%	184
Middle Eastern	0.414%	242
Admixed American	0.334%	299
South Asian	0.0158%	6,309
European (non-Finnish)	0.00704%	14,205

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.Pro477=
Coding: c.1431C>T
MANE Select: NM_001360016
dbSNP: rs77214077
Type: single nucleotide variant
Location: chrX:154532214 (GRCh38)
Structure: AlphaFold pLDDT 94.54 · 25 PDB
Residue 477: an α-helix

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

Disease context

G6PD deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: anemia, nonspherocytic hemolytic, due to G6PD deficiency

Similar variants

G6PD p.Gly477Arg Pathogenic/Likely pathogenic ★★ 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
G6PD p.Arg166Cys 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-pro477 (accessed [today's date]).

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