R4S (p.Arg4Ser) variant of CACNB2 (Q08289)
R4S (p.Arg4Ser) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R4S (p.Arg4Ser) variant details
- p.Arg4Ser
- gnomAD 10-18140748-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.14
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available