R95H (p.Arg95His) variant of LBR (Delta(14)-sterol reductase LBR)
R95H (p.Arg95His) 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 Greenberg dysplasia; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R95H (p.Arg95His) variant details
- p.Arg95His
- rs371428900
- ClinGen CA1417515
- cosmic curated COSV99687
- ClinVar RCV001946184
- Uncertain significance
- Greenberg dysplasia; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.90
- PolyPhen-2 0.83
- SIFT 0.32
- ClinVar: Uncertain significance (Greenberg dysplasia; not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available