K23R (p.Lys23Arg) variant of KCNJ5 (P48544)
K23R (p.Lys23Arg) 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 0.31 / 1. The record also includes population frequency data and structural context.
K23R (p.Lys23Arg) variant details
- p.Lys23Arg
- rs1944494211
- ClinGen CA383245569
- ClinVar RCV002362313
- TOPMed rs1944494211
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.30
- MetaLR 0.49
- MetaSVM -0.65
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.08
- 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