A27S (p.Ala27Ser) variant of WRN (Q14191)
A27S (p.Ala27Ser) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- ExAC rs778355874
- TOPMed rs778355874
- gnomAD rs778355874
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0527
- REVEL 0.02
- CADD 4.49
- PolyPhen-2 0.02
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available