Y22F (p.Tyr22Phe) variant of KCNE2 (Q9Y6J6)
Y22F (p.Tyr22Phe) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y22F (p.Tyr22Phe) variant details
- p.Tyr22Phe
- rs1979532436
- ClinGen CA410196202
- ClinVar RCV004524862
- Ensembl rs1979532436
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.66
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.88
- MetaSVM 0.98
- CADD 22.50
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available