S57R (p.Ser57Arg) variant of KCNJ5 (P48544)
S57R (p.Ser57Arg) in KCNJ5 (P48544) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S57R (p.Ser57Arg) variant details
- p.Ser57Arg
- 1000Genomes rs6590357
- ESP rs6590357
- ExAC rs6590357
- TOPMed rs6590357
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.34
- MetaLR 0.65
- MetaSVM -0.23
- CADD 7.58
- PolyPhen-2 0.19
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available