P99H (p.Pro99His) variant of CACNA1A (O00555)
P99H (p.Pro99His) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
P99H (p.Pro99His) variant details
- p.Pro99His
- cosmic curated COSV10080
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.83
- MetaLR 0.75
- MetaSVM 0.69
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available