S57T (p.Ser57Thr) variant of KCNJ5 (P48544)
S57T (p.Ser57Thr) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S57T (p.Ser57Thr) variant details
- p.Ser57Thr
- TOPMed rs1487831175
- gnomAD rs1487831175
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.27
- MetaLR 0.56
- MetaSVM -0.38
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Long QT syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available