S17F (p.Ser17Phe) variant of CACNA1A (O00555)
S17F (p.Ser17Phe) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- TOPMed rs931963287
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.36
- AlphaMissense 0.36
- MetaLR 0.73
- MetaSVM 0.15
- CADD 24.40
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available