T39I (p.Thr39Ile) variant of KCNJ2 (P63252)
T39I (p.Thr39Ile) 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 0.40 / 1. The record also includes population frequency data and structural context.
T39I (p.Thr39Ile) variant details
- p.Thr39Ile
- gnomAD rs1367740803
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.18
- MetaLR 0.27
- MetaSVM -0.73
- CADD 23.40
- SIFT 0.03
- ClinVar: Uncertain significance (Andersen Tawil syndrome; Short QT syndrome type 3)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available