F46del (p.Phe46del) variant of WRN (Q14191)
F46del (p.Phe46del) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
F46del (p.Phe46del) variant details
- rs768226589
- gnomAD 8-31059190-CCTT-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 16.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available