D42N (p.Asp42Asn) variant of WRN (Q14191)
D42N (p.Asp42Asn) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- gnomAD 8-31059180-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.26
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available