D42G (p.Asp42Gly) variant of WRN (Q14191)
D42G (p.Asp42Gly) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D42G (p.Asp42Gly) variant details
- p.Asp42Gly
- gnomAD 8-31059181-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.44
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available