A21D (p.Ala21Asp) variant of CACNA1B (Q00975)
A21D (p.Ala21Asp) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- gnomAD 9-137877995-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.38
- MetaLR 0.70
- MetaSVM 0.39
- CADD 19.50
- PolyPhen-2 0.08
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available