A10S (p.Ala10Ser) variant of WRN (Q14191)
A10S (p.Ala10Ser) in WRN (Q14191) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- TOPMed rs888468405
- gnomAD rs888468405
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0374
- REVEL 0.01
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available