R31L (p.Arg31Leu) variant of KCNJ11 (Q14654)
R31L (p.Arg31Leu) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R31L (p.Arg31Leu) variant details
- p.Arg31Leu
- 1000Genomes rs571564577
- ExAC rs571564577
- TOPMed rs571564577
- gnomAD rs571564577
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.42
- CADD 19.60
- PolyPhen-2 0.14
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available