N29S (p.Asn29Ser) variant of CACNA1C (Q13936)
N29S (p.Asn29Ser) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N29S (p.Asn29Ser) variant details
- p.Asn29Ser
- gnomAD 12-2115260-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.37
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available