G29W (p.Gly29Trp) variant of KCNQ5 (Q9NR82)
G29W (p.Gly29Trp) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar, EBI, 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 0.50 / 1. The record also includes population frequency data and structural context.
G29W (p.Gly29Trp) variant details
- p.Gly29Trp
- rs952233278
- ClinGen CA364824120
- ClinVar RCV001815953
- TOPMed rs952233278
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.48
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available