RAB27A p.Asp5=
c.15T>C · rs952920589 · VCV1094283
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Griscelli syndrome type 2
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP -1.9, phastCons 1 |
| Overall | ||
| CADD | 6.372 | 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
- RAB27A
- Protein
- p.Asp5=
- Coding
- c.15T>C
- MANE Select
- NM_183235
- dbSNP
- rs952920589
- Type
- single nucleotide variant
- Location
- chr15:55234920 (GRCh38)
- Gene constraint
- LOEUF 1.126 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 84.69 · 11 PDB
Disease context
Griscelli syndrome type 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Familial hemophagocytic lymphohistiocytosis (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Infancy
- Prevalence
- 1-9 / 100 000 (Sweden)
Similar variants
- RAB27A c.239+1G>T Pathogenic ★★ same condition
- RAB27A c.467+1G>C Pathogenic/Likely pathogenic ★★ same condition
- RAB27A p.Ala76Val Pathogenic/Likely pathogenic ★★ same condition
- RAB27A p.Arg184Ter Pathogenic ★★ same condition
- RAB27A p.Arg82Cys Pathogenic/Likely pathogenic ★★ same condition
- RAB27A p.Asp74His Likely pathogenic ★★ same condition
- RAB27A p.Gln118Ter Pathogenic ★★ same condition
- RAB27A p.Gln172Ter Pathogenic/Likely 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/rab27a-p-asp5 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown