G5R (p.Gly5Arg) variant of CACNA1B (Q00975)
G5R (p.Gly5Arg) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- gnomAD 9-137877946-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.69
- MetaLR 0.86
- MetaSVM 0.86
- CADD 23.50
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available