M59L (p.Met59Leu) variant of KCNE2 (Q9Y6J6)
M59L (p.Met59Leu) 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 0.51 / 1. The record also includes population frequency data and structural context.
M59L (p.Met59Leu) variant details
- p.Met59Leu
- ExAC rs770739581
- TOPMed rs770739581
- gnomAD rs770739581
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.58
- MetaSVM 0.07
- CADD 21.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available