G10R (p.Gly10Arg) variant of KCNQ4 (P56696)
G10R (p.Gly10Arg) 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 0.49 / 1. The record also includes population frequency data and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- TOPMed rs1170668900
- gnomAD rs1170668900
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.35
- MetaLR 0.79
- MetaSVM 0.25
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.55
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available