A10T (p.Ala10Thr) variant of WRN (Q14191)
A10T (p.Ala10Thr) 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 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs888468405
- ClinGen CA370912058
- ClinVar RCV003005894
- TOPMed rs888468405
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0269
- REVEL 0.00
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)