G15W (p.Gly15Trp) variant of KCNQ5 (Q9NR82)
G15W (p.Gly15Trp) in KCNQ5 (Q9NR82) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G15W (p.Gly15Trp) variant details
- p.Gly15Trp
- TOPMed rs1245708170
- gnomAD rs1245708170
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.67
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available