G28V (p.Gly28Val) variant of CACNA1B (Q00975)
G28V (p.Gly28Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- gnomAD 9-137878016-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.38
- MetaLR 0.75
- MetaSVM 0.07
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available