A33A (p.Ala33Ala) variant of WRN (Q14191)
A33A (p.Ala33Ala) in WRN (Q14191) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A33A (p.Ala33Ala) variant details
- p.Ala33Ala
- rs753114305
- gnomAD 8-31059155-A-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 10.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available