R34L (p.Arg34Leu) variant of KCNJ11 (Q14654)
R34L (p.Arg34Leu) in KCNJ11 (Q14654) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHF2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- ESP rs141145502
- ExAC rs141145502
- TOPMed rs141145502
- gnomAD rs141145502
- Pathogenic
- in HHF2
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.96
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available