S10N (p.Ser10Asn) variant of KCNJ2 (P63252)
S10N (p.Ser10Asn) 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 0.43 / 1. The record also includes population frequency data and structural context.
S10N (p.Ser10Asn) variant details
- p.Ser10Asn
- TOPMed rs1187051577
- gnomAD rs1187051577
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.25
- MetaLR 0.20
- MetaSVM -0.89
- CADD 23.70
- SIFT 0.04
- ClinVar: Uncertain significance (Andersen Tawil syndrome; Short QT syndrome type 3)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available