K32K (p.Lys32Lys) variant of WRN (Q14191)
K32K (p.Lys32Lys) in WRN (Q14191) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
K32K (p.Lys32Lys) variant details
- p.Lys32Lys
- rs2130001536
- gnomAD 8-31058543-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 23.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available