R3S (p.Arg3Ser) variant of CACNA1B (Q00975)
R3S (p.Arg3Ser) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- gnomAD 9-137877940-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.79
- MetaLR 0.95
- MetaSVM 1.09
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available