R20Q (p.Arg20Gln) variant of CACNA1B (Q00975)
R20Q (p.Arg20Gln) 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.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- gnomAD 9-137877992-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.30
- MetaLR 0.55
- MetaSVM 0.04
- CADD 20.80
- PolyPhen-2 0.10
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available