E67K (p.Glu67Lys) variant of CYP11B1 (P15538)
E67K (p.Glu67Lys) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- rs762414385
- ClinGen CA4905686
- cosmic curated COSV10642
- ClinVar RCV002792799
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.36
- CADD 18.70
- PolyPhen-2 0.93
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)