G28R (p.Gly28Arg) variant of CACNA1B (Q00975)
G28R (p.Gly28Arg) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- gnomAD 9-137878015-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.38
- MetaLR 0.70
- MetaSVM -0.10
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available