K32N (p.Lys32Asn) variant of WRN (Q14191)
K32N (p.Lys32Asn) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K32N (p.Lys32Asn) variant details
- p.Lys32Asn
- rs2130001536
- NCI-TCGA Cosmic COSV5329
- ClinGen CA370912299
- ClinVar RCV001990648
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.09
- CADD 33.00
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs34477820)
- UniProt: Uncertain significance (in dbSNP:rs34477820)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)