S35R (p.Ser35Arg) variant of CACNA1D (Q01668)
S35R (p.Ser35Arg) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S35R (p.Ser35Arg) variant details
- p.Ser35Arg
- rs2358733
- gnomAD 3-53329402-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 21.90
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available