G58S (p.Gly58Ser) variant of KCNJ5 (P48544)
G58S (p.Gly58Ser) in KCNJ5 (P48544) 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 0.87 / 1. The record also includes population frequency data and structural context.
G58S (p.Gly58Ser) variant details
- p.Gly58Ser
- rs550909372
- ClinGen CA6357833
- ClinVar RCV002399171
- 1000Genomes rs550909372
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.95
- MetaLR 0.97
- MetaSVM 1.07
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available