Q11R (p.Gln11Arg) variant of CACNA1D (Q01668)
Q11R (p.Gln11Arg) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q11R (p.Gln11Arg) variant details
- p.Gln11Arg
- gnomAD 3-53495198-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.17
- MetaLR 0.68
- MetaSVM -0.18
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available