D19N (p.Asp19Asn) variant of CACNA1D (Q01668)
D19N (p.Asp19Asn) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- rs1028119639
- gnomAD 3-53329375-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 18.50
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available