E9V (p.Glu9Val) variant of CACNA1S (Q13698)
E9V (p.Glu9Val) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- ExAC rs761386471
- gnomAD rs761386471
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.47
- AlphaMissense 0.14
- MetaLR 0.84
- MetaSVM 0.11
- CADD 23.40
- PolyPhen-2 0.83
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available