G27V (p.Gly27Val) variant of CACNA1B (Q00975)
G27V (p.Gly27Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- gnomAD 9-137878013-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.33
- MetaLR 0.73
- MetaSVM -0.14
- CADD 22.50
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 3e-05)
- Structural context available
- Literature evidence available