p.Arg36 Val39del variant of WRN (Q14191)
p.Arg36 Val39del in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg36 Val39del variant details
- rs1343635332
- gnomAD 8-31059156-TGTGTT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 18.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available