R14W (p.Arg14Trp) variant of CACNA1D (Q01668)
R14W (p.Arg14Trp) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- rs766424529
- ClinGen CA2453591
- ClinVar RCV003859986
- ExAC rs766424529
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.44
- MetaLR 0.68
- MetaSVM 0.25
- CADD 26.90
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available