S60G (p.Ser60Gly) variant of WRN (Q14191)
S60G (p.Ser60Gly) 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.
S60G (p.Ser60Gly) variant details
- p.Ser60Gly
- ExAC rs767288688
- gnomAD rs767288688
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.13
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available