Y9H (p.Tyr9His) variant of CACNA1C (Q13936)
Y9H (p.Tyr9His) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y9H (p.Tyr9His) variant details
- p.Tyr9His
- gnomAD 12-2053587-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.39
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available