A37S (p.Ala37Ser) variant of CACNB2 (Q08289)
A37S (p.Ala37Ser) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A37S (p.Ala37Ser) variant details
- p.Ala37Ser
- gnomAD 10-18140845-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.18
- CADD 20.60
- PolyPhen-2 0.02
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available