T20T (p.Thr20Thr) variant of KCNE1 (P15382)
T20T (p.Thr20Thr) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T20T (p.Thr20Thr) variant details
- p.Thr20Thr
- gnomAD 21-34449575-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0876
- CADD 0.99
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.53
- Literature evidence available