A15S (p.Ala15Ser) variant of CACNB2 (Q08289)
A15S (p.Ala15Ser) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- gnomAD 10-18140779-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.34
- CADD 20.50
- PolyPhen-2 0.02
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available