A18G (p.Ala18Gly) variant of KCNQ4 (P56696)
A18G (p.Ala18Gly) in KCNQ4 (P56696) 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 0.40 / 1. The record also includes population frequency data and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- TOPMed rs1347676173
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.28
- MetaLR 0.75
- MetaSVM 0.25
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available