G16R (p.Gly16Arg) variant of KCNQ4 (P56696)
G16R (p.Gly16Arg) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- Ensembl rs1345793795
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.41
- MetaLR 0.79
- MetaSVM 0.59
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available