F12C (p.Phe12Cys) variant of KCNE1 (P15382)
F12C (p.Phe12Cys) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes experimental measurements and structural context.
F12C (p.Phe12Cys) variant details
- p.Phe12Cys
- Ensembl rs929395747
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.24
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.23