A15V (p.Ala15Val) variant of CACNB2 (Q08289)
A15V (p.Ala15Val) in CACNB2 (Q08289) 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 0.46 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs897880041
- NCI-TCGA Cosmic COSV5663
- cosmic curated COSV56639
- gnomAD rs897880041
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.41
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available