I53T (p.Ile53Thr) variant of WRN (Q14191)
I53T (p.Ile53Thr) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Werner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I53T (p.Ile53Thr) variant details
- p.Ile53Thr
- rs1276730563
- ClinGen CA370912549
- ClinVar RCV001365077
- TOPMed rs1276730563
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.06
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)