G88S (p.Gly88Ser) variant of LBR (Delta(14)-sterol reductase LBR)
G88S (p.Gly88Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G88S (p.Gly88Ser) variant details
- p.Gly88Ser
- rs754965227
- ClinGen CA1417522
- ClinVar RCV001811885
- ClinVar RCV004988753
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 21.10
- PolyPhen-2 0.22
- SIFT 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- 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)