K48E (p.Lys48Glu) variant of POR (NADPH--cytochrome P450 reductase)
K48E (p.Lys48Glu) in POR (NADPH--cytochrome P450 reductase) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- rs1347157369
- ClinGen CA367738617
- NCI-TCGA Cosmic COSV1012
- cosmic curated COSV10120
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.11
- CADD 24.20
- PolyPhen-2 0.23
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)