K162E (p.Lys162Glu) variant of CFTR (P13569)
K162E (p.Lys162Glu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CFTR-related disorder; Cystic fibrosis; Congenital bilateral aplasia of vas defe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
K162E (p.Lys162Glu) variant details
- p.Lys162Glu
- rs397508731
- ClinGen CA327525
- ClinVar RCV000757854
- ClinVar RCV001532116
- Pathogenic/Likely pathogenic
- CFTR-related disorder; Cystic fibrosis; Congenital bilateral aplasia of vas defe
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.82
- MetaSVM 0.73
- CADD 27.50
- ClinVar: Pathogenic/Likely pathogenic (CFTR-related disorder; Cystic fibrosis; Congenital bilateral apl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)