H79P (p.His79Pro) variant of KCNE2 (Q9Y6J6)
H79P (p.His79Pro) 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 0.66 / 1. The record also includes population frequency data and structural context.
H79P (p.His79Pro) variant details
- p.His79Pro
- ExAC rs770895197
- TOPMed rs770895197
- gnomAD rs770895197
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.72
- MetaLR 0.87
- MetaSVM 0.88
- CADD 25.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available