K40R (p.Lys40Arg) variant of KCNE2 (Q9Y6J6)
K40R (p.Lys40Arg) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- ExAC rs752190819
- gnomAD rs752190819
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.35
- MetaSVM -0.72
- CADD 2.91
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available