Y12H (p.Tyr12His) variant of CACNA1B (Q00975)
Y12H (p.Tyr12His) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y12H (p.Tyr12His) variant details
- p.Tyr12His
- gnomAD 9-137877967-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.56
- MetaLR 0.88
- MetaSVM 0.83
- CADD 25.30
- PolyPhen-2 0.72
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available