A32S (p.Ala32Ser) variant of CACNB2 (Q08289)
A32S (p.Ala32Ser) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- gnomAD 10-18140830-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.16
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available