P15H (p.Pro15His) variant of CACNA1B (Q00975)
P15H (p.Pro15His) 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.
P15H (p.Pro15His) variant details
- p.Pro15His
- gnomAD 9-137877977-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.25
- MetaLR 0.72
- MetaSVM 0.10
- CADD 17.70
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available