C15F (p.Cys15Phe) variant of WRN (Q14191)
C15F (p.Cys15Phe) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
C15F (p.Cys15Phe) variant details
- p.Cys15Phe
- gnomAD 8-31058491-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.08
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available