GP6 p.Ala284=
c.852G>A · VCV4806026
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0166%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.015 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -2.3 | GERP -2.5 |
| Overall | ||
| CADD | 0.749 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0166%
Middle Eastern · 1/6,040 alleles
Filtering AF
0.000751%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000281%
Overall
0.000438%
7/1,598,430 alleles · ultra-rare
exomes 7/1,446,140 · genomes 0/152,290 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0166% | 6,040 |
| East Asian | 0.00453% | 22,084 |
| European (non-Finnish) | 0.000341% | 293,230 |
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.Ala284=
- Coding
- c.852G>A
- MANE Select
- NM_016363
- Type
- single nucleotide variant
- Location
- chr19:55015089 (GRCh38)
- Gene constraint
- LOEUF 1.734 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 76.52 · 6 PDB
Similar variants
- GP6 p.Ala284Val Likely benign ★ 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-ala284 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown