L8V (p.Leu8Val) variant of CACNA1B (Q00975)
L8V (p.Leu8Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- gnomAD 9-137877955-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.36
- MetaLR 0.64
- MetaSVM -0.31
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available