P49T (p.Pro49Thr) variant of KCNJ5 (P48544)
P49T (p.Pro49Thr) 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 0.56 / 1. The record also includes population frequency data and structural context.
P49T (p.Pro49Thr) variant details
- p.Pro49Thr
- ExAC rs768356887
- TOPMed rs768356887
- gnomAD rs768356887
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.55
- MetaLR 0.60
- MetaSVM 0.06
- CADD 17.90
- PolyPhen-2 0.18
- SIFT 0.19
- ClinVar: Uncertain significance (Long QT syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available