D17G (p.Asp17Gly) variant of KCNJ2 (P63252)
D17G (p.Asp17Gly) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- ExAC rs780600986
- gnomAD rs780600986
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.23
- MetaLR 0.06
- MetaSVM -1.08
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (Andersen Tawil syndrome; Short QT syndrome type 3)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available