S15W (p.Ser15Trp) variant of RP2 (Protein XRP2)
S15W (p.Ser15Trp) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S15W (p.Ser15Trp) variant details
- p.Ser15Trp
- NCI-TCGA Cosmic COSV5446
- TOPMed rs1556313479
- gnomAD rs1556313479
- Uncertain significance
- Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.18
- SIFT 0.01
- ClinVar: Uncertain significance (Stargardt disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available