K47R (p.Lys47Arg) variant of CACNA1D (Q01668)
K47R (p.Lys47Arg) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- gnomAD 3-53497224-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.24
- MetaLR 0.76
- MetaSVM 0.13
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available