Q13R (p.Gln13Arg) variant of CACNA1D (Q01668)
Q13R (p.Gln13Arg) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q13R (p.Gln13Arg) variant details
- p.Gln13Arg
- gnomAD 3-53495204-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.24
- MetaLR 0.68
- MetaSVM 0.13
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available