RAB8A p.Phe163Ser
c.488T>C · rs2090916374 · VCV3150839
⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why
Computational evidence
| Protein change | ||
| AlphaMissense | 0.4102 | ambiguous |
|---|---|---|
| REVEL | 0.372 | indeterminate |
| SaProt | LLR -10.18 | damaging |
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
| Constraint at this position | ||
| Conservation | phyloP 5 | GERP 0.86, phastCons 1 |
| Regional constraint | o/e 0.68 | unconstrained · MANE · 14 kb · p 3.3e-06 · regional, not allelic |
| Overall | ||
| CADD | 28.2 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
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
- RAB8A
- Protein
- p.Phe163Ser
- Coding
- c.488T>C
- MANE Select
- NM_005370
- dbSNP
- rs2090916374
- Type
- single nucleotide variant
- Location
- chr19:16129561 (GRCh38)
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/rab8a-p-phe163ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown