R39S (p.Arg39Ser) variant of KCNJ5 (P48544)
R39S (p.Arg39Ser) in KCNJ5 (P48544) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R39S (p.Arg39Ser) variant details
- p.Arg39Ser
- ESP rs200064599
- ExAC rs200064599
- TOPMed rs200064599
- gnomAD rs200064599
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.50
- MetaLR 0.69
- MetaSVM -0.51
- CADD 22.70
- PolyPhen-2 0.15
- SIFT 0.02
- EBI: Likely benign (in dbSNP:rs560269341)
- UniProt: Likely benign (in dbSNP:rs560269341)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available