R4G (p.Arg4Gly) variant of LBR (Delta(14)-sterol reductase LBR)
R4G (p.Arg4Gly) 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 0.53 / 1. The record also includes population frequency data and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- rs781666925
- ClinGen CA1417591
- ClinVar RCV003850395
- ExAC rs781666925
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 23.10
- PolyPhen-2 0.62
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available