P119L (p.Pro119Leu) variant of LBR (Delta(14)-sterol reductase LBR)
P119L (p.Pro119Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P119L (p.Pro119Leu) variant details
- p.Pro119Leu
- rs137852605
- ClinGen CA120512
- cosmic curated COSV55289
- ClinVar RCV000010138
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.51
- CADD 23.90
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Pathogenic (in PHA)
- UniProt: Pathogenic (in PHA)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: Lamin B-receptor mutations in Pelger-Huët anomaly. (PMID 14617022)