K47N (p.Lys47Asn) variant of CACNA1D (Q01668)
K47N (p.Lys47Asn) in CACNA1D (Q01668) 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.
K47N (p.Lys47Asn) variant details
- p.Lys47Asn
- gnomAD 3-53329395-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 23.30
- SIFT 0.00
- Most common in the East Asian population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available