S69F (p.Ser69Phe) variant of LBR (Delta(14)-sterol reductase LBR)
S69F (p.Ser69Phe) 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; not provided; Greenberg dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S69F (p.Ser69Phe) variant details
- p.Ser69Phe
- rs369299493
- ClinGen CA1417537
- ClinVar RCV000280387
- ClinVar RCV001850542
- Uncertain significance
- Inborn genetic diseases; not provided; Greenberg dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.60
- ESM-1b 0.47
- AlphaMissense 0.56
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Greenberg dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- 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)