Is GP6 p.Ser244= (c.732T>C) pathogenic?

GP6 p.Ser244= (c.732T>C) is classified Likely benign in GP6 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-04-09). Very rare (popmax 0.00062%, nfe).

How common is GP6 p.Ser244= (c.732T>C) in the general population?

GP6 p.Ser244= (c.732T>C) is very rare (popmax 0.00062%, nfe) (gnomAD).

GP6 p.Ser244=

c.732T>C · VCV4739650

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00062%, nfe)

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 0.61	GERP 0.073, phastCons 0.007
Overall
CADD	7.986	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00062% European (non-Finnish) · 7/1,128,296 alleles

Filtering AF 0.000258% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000166%

Overall 0.000449% 7/1,557,844 alleles · very rare exomes 7/1,405,552 · genomes 0/152,292 · joint denominator

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: GP6
Protein: p.Ser244=
Coding: c.732T>C
MANE Select: NM_016363
Type: single nucleotide variant
Location: chr19:55015726 (GRCh38)
Gene constraint: LOEUF 1.734 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 76.52 · 6 PDB

Full GP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

GP6 p.Ser244Tyr Uncertain significance ★ ⚠ same residue
GP6 p.Trp160Ter Pathogenic ★★ same type
GP6 c.*106A>C Uncertain significance ★★ same type
GP6 c.*189C>T Uncertain significance ★★ same type
GP6 c.*304C>T Uncertain significance ★★ same type
GP6 c.*523G>C Uncertain significance ★★ same type
GP6 c.*531T>C Uncertain significance ★★ same type
GP6 c.*820T>C Uncertain significance ★★ same type

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/gp6-p-ser244 (accessed [today's date]).

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