V8A (p.Val8Ala) variant of CACNA1E (Q15878)
V8A (p.Val8Ala) in CACNA1E (Q15878) 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.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- ExAC rs763180598
- gnomAD rs763180598
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.30
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available