W18R (p.Trp18Arg) variant of WRN (Q14191)
W18R (p.Trp18Arg) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
W18R (p.Trp18Arg) variant details
- p.Trp18Arg
- gnomAD 8-31058499-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.23
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available