F58I (p.Phe58Ile) variant of KCNJ2 (P63252)
F58I (p.Phe58Ile) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar 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 0.81 / 1. The record also includes population frequency data and structural context.
F58I (p.Phe58Ile) variant details
- p.Phe58Ile
- Ensembl rs2074385317
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.90
- MetaLR 0.87
- MetaSVM 0.88
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available