D42E (p.Asp42Glu) variant of WRN (Q14191)
D42E (p.Asp42Glu) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- gnomAD 8-31059182-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.22
- CADD 13.30
- PolyPhen-2 0.24
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available