L16M (p.Leu16Met) variant of KCNE1 (P15382)
L16M (p.Leu16Met) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- ExAC rs745951012
- gnomAD rs745951012
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.20
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.1e-06)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.25