G38G (p.Gly38Gly) variant of KCNB1 (Q14721)
G38G (p.Gly38Gly) in KCNB1 (Q14721) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and published literature.
G38G (p.Gly38Gly) variant details
- p.Gly38Gly
- gnomAD 20-49299381-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0914
- CADD 1.52
- Population evidence available
- Literature evidence available