G15R (p.Gly15Arg) variant of KCNQ5 (Q9NR82)
G15R (p.Gly15Arg) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal dominant 46. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- rs1245708170
- ClinGen CA364824033
- ClinVar RCV002810972
- TOPMed rs1245708170
- Uncertain significance
- Intellectual disability, autosomal dominant 46
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.69
- CADD 25.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 46)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00034)
- Structural context available