K40N (p.Lys40Asn) variant of LBR (Delta(14)-sterol reductase LBR)
K40N (p.Lys40Asn) in LBR (Delta(14)-sterol reductase LBR) 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 0.89 / 1. The record also includes published literature and structural context.
K40N (p.Lys40Asn) variant details
- p.Lys40Asn
- rs2527841815
- cosmic curated COSV55289
- ClinGen CA345002914
- ClinVar RCV002761872
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- ESM-1b 1.00
- AlphaMissense 0.75
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)