A26V (p.Ala26Val) variant of CACNA1B (Q00975)
A26V (p.Ala26Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- gnomAD 9-137878010-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.29
- MetaLR 0.64
- MetaSVM -0.03
- CADD 21.50
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available