L44P (p.Leu44Pro) variant of WRN (Q14191)
L44P (p.Leu44Pro) in WRN (Q14191) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- gnomAD 8-31059186-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 26.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available