D17G (p.Asp17Gly) variant of KCNQ4 (P56696)
D17G (p.Asp17Gly) 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 0.46 / 1. The record also includes population frequency data and structural context.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- Ensembl rs2148830548
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.42
- MetaLR 0.86
- MetaSVM 0.60
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available