Q22H (p.Gln22His) variant of WRN (Q14191)
Q22H (p.Gln22His) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
Q22H (p.Gln22His) variant details
- p.Gln22His
- rs1812361355
- gnomAD rs1812361355
- ClinGen CA370912224
- ClinVar RCV001368268
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.06
- CADD 15.60
- PolyPhen-2 0.46
- SIFT 0.02
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)