P91S (p.Pro91Ser) variant of LBR (Delta(14)-sterol reductase LBR)
P91S (p.Pro91Ser) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Greenberg dysplasia; Regressive spondylometaphyseal dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P91S (p.Pro91Ser) variant details
- p.Pro91Ser
- rs201003932
- ClinGen CA1417518
- ClinVar RCV000925383
- ClinVar RCV001102490
- Conflicting interpretations
- not provided; Greenberg dysplasia; Regressive spondylometaphyseal dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.10
- PolyPhen-2 0.03
- SIFT 0.44
- ClinVar: Conflicting classifications of pathogenicity (not provided; Greenberg dysplasia; Regressive spondylometaphysea)
- EBI: Likely benign
- UniProt: Likely benign
- 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)