I53V (p.Ile53Val) variant of WRN (Q14191)
I53V (p.Ile53Val) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- rs772963859
- ClinGen CA4703993
- ClinVar RCV001045288
- ExAC rs772963859
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.03
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)