R75C (p.Arg75Cys) variant of LBR (Delta(14)-sterol reductase LBR)
R75C (p.Arg75Cys) 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 0.69 / 1. The record also includes population frequency data and structural context.
R75C (p.Arg75Cys) variant details
- p.Arg75Cys
- rs553554966
- ClinGen CA1417534
- cosmic curated COSV10880
- ClinVar RCV001337895
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.54
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available