T7T (p.Thr7Thr) variant of KCNE1 (P15382)
T7T (p.Thr7Thr) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T7T (p.Thr7Thr) variant details
- p.Thr7Thr
- gnomAD 21-34449614-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0835
- CADD 0.46
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.07
- Literature evidence available