R14P (p.Arg14Pro) variant of CACNA1D (Q01668)
R14P (p.Arg14Pro) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R14P (p.Arg14Pro) variant details
- p.Arg14Pro
- gnomAD 3-53495207-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.43
- MetaLR 0.67
- MetaSVM 0.20
- CADD 25.50
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available