R11S (p.Arg11Ser) variant of CACNA1B (Q00975)
R11S (p.Arg11Ser) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R11S (p.Arg11Ser) variant details
- p.Arg11Ser
- gnomAD 9-137877964-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.67
- MetaLR 0.91
- MetaSVM 0.96
- CADD 23.70
- PolyPhen-2 0.74
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available