V35A (p.Val35Ala) variant of WRN (Q14191)
V35A (p.Val35Ala) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Werner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V35A (p.Val35Ala) variant details
- p.Val35Ala
- rs538178496
- ClinGen CA4703984
- ClinVar RCV001300838
- 1000Genomes rs538178496
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.03
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)