Y9N (p.Tyr9Asn) variant of CACNA1C (Q13936)
Y9N (p.Tyr9Asn) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y9N (p.Tyr9Asn) variant details
- p.Tyr9Asn
- gnomAD 12-2053587-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.48
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available