GP1BA p.Pro430=
c.1290C>T · rs1970381829 · VCV3030475
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
GP1BA-related disorder
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 -6.8 | GERP -2.5 |
| Overall | ||
| CADD | 7.353 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- GP1BA
- Protein
- p.Pro430=
- Coding
- c.1290C>T
- MANE Select
- NM_000173
- dbSNP
- rs1970381829
- Type
- single nucleotide variant
- Location
- chr17:4933894 (GRCh38)
- Gene constraint
- LOEUF 1.289 · pLI 0.10 (gnomAD)
- Structure
- AlphaFold pLDDT 64.65 · 22 PDB
- Residue 430
- the 'disordered' region
Disease context
GP1BA-related disorder
Similar variants
- GP1BA p.Ala172Val Pathogenic ★★ ⚠ same condition
- GP1BA p.Gly249Val Pathogenic/Likely pathogenic ★★ same condition
- GP1BA p.Leu83Phe Likely pathogenic ★★ ⚠ same condition
- GP1BA p.Met255Val Pathogenic/Likely pathogenic ★★ ⚠ same condition
- GP1BA p.Val31Glu Uncertain significance ★★ ⚠ same condition
- GP1BA p.Asn198Ser Likely pathogenic ★ same condition
- GP1BA p.Cys33Gly Likely pathogenic ★ same condition
- GP1BA p.Cys33Tyr 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/gp1ba-p-pro430 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown