I35V (p.Ile35Val) variant of KCNJ5 (P48544)
I35V (p.Ile35Val) 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 0.22 / 1. The record also includes population frequency data and structural context.
I35V (p.Ile35Val) variant details
- p.Ile35Val
- ExAC rs752900890
- TOPMed rs752900890
- gnomAD rs752900890
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.26
- MetaLR 0.52
- MetaSVM -0.68
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Long QT syndrome)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available