V21A (p.Val21Ala) variant of WRN (Q14191)
V21A (p.Val21Ala) in WRN (Q14191) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- rs1303691827
- TOPMed rs1303691827
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0362
- REVEL 0.01
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.79
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available