T48K (p.Thr48Lys) variant of KCNB1 (Q14721)
T48K (p.Thr48Lys) in KCNB1 (Q14721) 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.
T48K (p.Thr48Lys) variant details
- p.Thr48Lys
- gnomAD 20-49299370-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available