S22N (p.Ser22Asn) variant of CACNA1C (Q13936)
S22N (p.Ser22Asn) 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 and published literature.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- rs769703001
- gnomAD 12-2115239-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.35
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Literature evidence available