S3N (p.Ser3Asn) variant of LBR (Delta(14)-sterol reductase LBR)
S3N (p.Ser3Asn) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- rs746311894
- ClinGen CA1417592
- ClinVar RCV002959007
- ClinVar RCV005655138
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.18
- ESM-1b 0.31
- AlphaMissense 0.13
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)