S34A (p.Ser34Ala) variant of LBR (Delta(14)-sterol reductase LBR)
S34A (p.Ser34Ala) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S34A (p.Ser34Ala) variant details
- p.Ser34Ala
- rs2527841983
- ClinGen CA345003051
- ClinVar RCV002955248
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 19.60
- PolyPhen-2 0.12
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)