A13V (p.Ala13Val) variant of CACNB2 (Q08289)
A13V (p.Ala13Val) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- Ensembl rs2130978587
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.25
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available