A27T (p.Ala27Thr) variant of WRN (Q14191)
A27T (p.Ala27Thr) 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 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs778355874
- ClinGen CA4703965
- ClinVar RCV001895348
- ExAC rs778355874
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0557
- REVEL 0.01
- CADD 6.78
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)