Y20H (p.Tyr20His) variant of CACNA1C (Q13936)
Y20H (p.Tyr20His) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Y20H (p.Tyr20His) variant details
- p.Tyr20His
- rs2083380157
- gnomAD 12-2115232-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.37
- CADD 24.60
- PolyPhen-2 0.02
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available