E45K (p.Glu45Lys) variant of NPHS1 (Nephrin)
E45K (p.Glu45Lys) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs199932050
- ClinGen CA9390904
- ClinVar RCV003077743
- ClinVar RCV004071756
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.14
- CADD 17.70
- PolyPhen-2 0.08
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00024)
- 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)