K32R (p.Lys32Arg) variant of WRN (Q14191)
K32R (p.Lys32Arg) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Werner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K32R (p.Lys32Arg) variant details
- p.Lys32Arg
- rs34477820
- ClinGen CA162716
- ClinVar RCV000122279
- ClinVar RCV000344080
- Conflicting interpretations
- not provided; not specified; Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.10
- CADD 25.80
- PolyPhen-2 0.28
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Werner syndrome)
- EBI: Benign (in dbSNP:rs34477820)
- UniProt: Benign (in dbSNP:rs34477820)
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Cited in: The Werner syndrome gene and global sequence variation. (PMID 11161804)
- Cited in: Lynch Syndrome. (PMID 20301390)