R22W (p.Arg22Trp) variant of CACNA1B (Q00975)
R22W (p.Arg22Trp) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R22W (p.Arg22Trp) variant details
- p.Arg22Trp
- gnomAD rs949782913
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.58
- MetaLR 0.76
- MetaSVM 0.67
- CADD 27.30
- PolyPhen-2 0.64
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available