T48I (p.Thr48Ile) variant of KCNB1 (Q14721)
T48I (p.Thr48Ile) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- gnomAD 20-49299370-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 9.60
- Population evidence available
- Structural context available
- Literature evidence available