G17R (p.Gly17Arg) variant of CACNA1B (Q00975)
G17R (p.Gly17Arg) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- gnomAD 9-137877982-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.54
- MetaLR 0.87
- MetaSVM 0.33
- CADD 23.30
- PolyPhen-2 0.45
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available