R20W (p.Arg20Trp) variant of CACNA1B (Q00975)
R20W (p.Arg20Trp) in CACNA1B (Q00975) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.43
- MetaLR 0.63
- MetaSVM 0.02
- CADD 23.10
- PolyPhen-2 0.35
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available