R11C (p.Arg11Cys) variant of CACNA1B (Q00975)
R11C (p.Arg11Cys) 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 0.64 / 1. The record also includes population frequency data and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.58
- MetaLR 0.90
- MetaSVM 0.90
- CADD 27.80
- PolyPhen-2 0.85
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 6e-05)
- Structural context available