T14T (p.Thr14Thr) variant of KCNE1 (P15382)
T14T (p.Thr14Thr) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T14T (p.Thr14Thr) variant details
- p.Thr14Thr
- gnomAD 21-34449593-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 6.58
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.44
- Literature evidence available