A26V (p.Ala26Val) variant of CALCB (P10092)
A26V (p.Ala26Val) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- ExAC rs779948872
- gnomAD rs779948872
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.02
- CADD 22.40
- PolyPhen-2 0.27
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available