T9A (p.Thr9Ala) variant of WRN (Q14191)
T9A (p.Thr9Ala) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
T9A (p.Thr9Ala) variant details
- p.Thr9Ala
- rs757791580
- ClinGen CA4703958
- ClinVar RCV000547889
- ExAC rs757791580
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0369
- REVEL 0.03
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)