G28A (p.Gly28Ala) variant of CACNA1B (Q00975)
G28A (p.Gly28Ala) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- gnomAD 9-137878016-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.35
- MetaLR 0.73
- MetaSVM -0.07
- CADD 17.00
- PolyPhen-2 0.02
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available