N22S (p.Asn22Ser) variant of CACNA1D (Q01668)
N22S (p.Asn22Ser) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N22S (p.Asn22Ser) variant details
- p.Asn22Ser
- gnomAD 3-53495231-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.29
- MetaLR 0.69
- MetaSVM 0.27
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available