S17P (p.Ser17Pro) variant of CACNA1A (O00555)
S17P (p.Ser17Pro) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- Ensembl rs2145192972
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.28
- MetaLR 0.55
- MetaSVM -0.25
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available