H27N (p.His27Asn) variant of CACNA1C (Q13936)
H27N (p.His27Asn) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H27N (p.His27Asn) variant details
- p.His27Asn
- gnomAD 12-2115253-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.47
- CADD 20.30
- PolyPhen-2 0.28
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available