R76Q (p.Arg76Gln) variant of LBR (Delta(14)-sterol reductase LBR)
R76Q (p.Arg76Gln) 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 0.46 / 1. The record also includes population frequency data and structural context.
R76Q (p.Arg76Gln) variant details
- p.Arg76Gln
- rs749991297
- ClinGen CA1417532
- cosmic curated COSV55287
- ClinVar RCV001811915
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.39
- ESM-1b 0.07
- AlphaMissense 0.21
- CADD 24.70
- PolyPhen-2 0.70
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available