G4C (p.Gly4Cys) variant of KCNB1 (Q14721)
G4C (p.Gly4Cys) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
G4C (p.Gly4Cys) variant details
- p.Gly4Cys
- gnomAD rs1156516300
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.58
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available