A21V (p.Ala21Val) variant of CACNA1B (Q00975)
A21V (p.Ala21Val) in CACNA1B (Q00975) is a missense change. Clinical records from ClinVar 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 0.38 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- TOPMed rs1401703291
- gnomAD rs1401703291
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.26
- MetaLR 0.73
- MetaSVM 0.37
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.8e-05)
- Structural context available