A44T (p.Ala44Thr) variant of KCNE1 (P15382)
A44T (p.Ala44Thr) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes experimental measurements and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- ExAC rs767315445
- gnomAD rs767315445
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.14
- Structural context available
- Functional MAVE scores for KCNE1: score 1.33