T50S (p.Thr50Ser) variant of WRN (Q14191)
T50S (p.Thr50Ser) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T50S (p.Thr50Ser) variant details
- p.Thr50Ser
- gnomAD rs1253538412
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.14
- CADD 9.23
- PolyPhen-2 0.01
- SIFT 0.82
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available