S22R (p.Ser22Arg) variant of CACNA1C (Q13936)
S22R (p.Ser22Arg) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- gnomAD 12-2115240-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.56
- CADD 22.70
- PolyPhen-2 0.29
- SIFT 0.03
- Population evidence available
- Literature evidence available