A116V (p.Ala116Val) variant of CACNA1A (O00555)
A116V (p.Ala116Val) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A116V (p.Ala116Val) variant details
- p.Ala116Val
- gnomAD rs1309534312
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.73
- MetaLR 0.65
- MetaSVM 0.51
- CADD 28.30
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available