N22K (p.Asn22Lys) variant of CACNA1D (Q01668)
N22K (p.Asn22Lys) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N22K (p.Asn22Lys) variant details
- p.Asn22Lys
- ExAC rs764470171
- TOPMed rs764470171
- gnomAD rs764470171
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.21
- MetaLR 0.65
- MetaSVM 0.14
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available