G18V (p.Gly18Val) variant of CACNA1B (Q00975)
G18V (p.Gly18Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- gnomAD 9-137877986-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.62
- MetaLR 0.90
- MetaSVM 0.73
- CADD 24.90
- PolyPhen-2 0.62
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available