G30V (p.Gly30Val) variant of KCNQ5 (Q9NR82)
G30V (p.Gly30Val) 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 0.49 / 1. The record also includes population frequency data and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- ExAC rs756542782
- TOPMed rs756542782
- gnomAD rs756542782
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.44
- CADD 22.50
- PolyPhen-2 0.21
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.4e-05)
- Structural context available