A19V (p.Ala19Val) variant of CACNA1A (O00555)
A19V (p.Ala19Val) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- ExAC rs764604964
- gnomAD rs764604964
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.27
- MetaLR 0.59
- MetaSVM -0.17
- CADD 23.40
- PolyPhen-2 0.38
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available