K32E (p.Lys32Glu) variant of WRN (Q14191)
K32E (p.Lys32Glu) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K32E (p.Lys32Glu) variant details
- p.Lys32Glu
- rs2487266647
- ClinGen CA370912294
- ClinVar RCV003614719
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.03
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs34477820)
- UniProt: Uncertain significance (in dbSNP:rs34477820)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)