R31Q (p.Arg31Gln) variant of KCNJ11 (Q14654)
R31Q (p.Arg31Gln) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- 1000Genomes rs571564577
- ExAC rs571564577
- TOPMed rs571564577
- gnomAD rs571564577
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.33
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available