R39C (p.Arg39Cys) variant of KCNJ5 (P48544)
R39C (p.Arg39Cys) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R39C (p.Arg39Cys) variant details
- p.Arg39Cys
- rs200064599
- ClinGen CA6357821
- cosmic curated COSV57967
- ClinVar RCV002373236
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.58
- MetaLR 0.77
- MetaSVM -0.01
- CADD 25.20
- PolyPhen-2 0.66
- SIFT 0.04
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign (in dbSNP:rs560269341)
- UniProt: Likely benign (in dbSNP:rs560269341)
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available