F46C (p.Phe46Cys) variant of WRN (Q14191)
F46C (p.Phe46Cys) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
F46C (p.Phe46Cys) variant details
- p.Phe46Cys
- gnomAD 8-31059193-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.20
- CADD 25.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available