S45R (p.Ser45Arg) variant of CACNA1D (Q01668)
S45R (p.Ser45Arg) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S45R (p.Ser45Arg) variant details
- p.Ser45Arg
- gnomAD 3-53497219-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.42
- MetaLR 0.75
- MetaSVM 0.46
- CADD 21.80
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available