G16A (p.Gly16Ala) variant of KCNQ4 (P56696)
G16A (p.Gly16Ala) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G16A (p.Gly16Ala) variant details
- p.Gly16Ala
- TOPMed rs1278081268
- gnomAD rs1278081268
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.36
- MetaLR 0.80
- MetaSVM 0.32
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available