R41L (p.Arg41Leu) variant of KCNJ5 (P48544)
R41L (p.Arg41Leu) 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 0.47 / 1. The record also includes population frequency data and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- 1000Genomes rs139073333
- ESP rs139073333
- ExAC rs139073333
- TOPMed rs139073333
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.42
- MetaLR 0.58
- MetaSVM -0.30
- CADD 22.40
- PolyPhen-2 0.18
- SIFT 0.22
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available