D17N (p.Asp17Asn) variant of KCNJ2 (P63252)
D17N (p.Asp17Asn) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wolff-Parkinson-White pattern. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- rs1331601602
- ClinGen CA400859744
- ClinVar RCV000656202
- gnomAD rs1331601602
- Uncertain significance
- Wolff-Parkinson-White pattern
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.14
- MetaLR 0.13
- MetaSVM -1.05
- PolyPhen-2 0.34
- SIFT 0.12
- MutPred 0.67
- ClinVar: Uncertain significance (Wolff-Parkinson-White pattern)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available