A26G (p.Ala26Gly) variant of CACNA1B (Q00975)
A26G (p.Ala26Gly) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A26G (p.Ala26Gly) variant details
- p.Ala26Gly
- gnomAD 9-137878010-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.29
- MetaLR 0.46
- MetaSVM -0.44
- CADD 20.20
- PolyPhen-2 0.05
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available