W17R (p.Trp17Arg) variant of KCNQ5 (Q9NR82)
W17R (p.Trp17Arg) 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; not provided. 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.
W17R (p.Trp17Arg) variant details
- p.Trp17Arg
- rs971617867
- ClinGen CA141452107
- ClinVar RCV001199250
- ClinVar RCV006557194
- Uncertain significance
- Intellectual disability, autosomal dominant 46; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.54
- CADD 23.90
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 46; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available