P128S (p.Pro128Ser) variant of CACNA1A (O00555)
P128S (p.Pro128Ser) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P128S (p.Pro128Ser) variant details
- p.Pro128Ser
- cosmic curated COSV64200
- TOPMed rs2060983382
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.60
- MetaLR 0.67
- MetaSVM 0.39
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available