D8Y (p.Asp8Tyr) variant of LBR (Delta(14)-sterol reductase LBR)
D8Y (p.Asp8Tyr) 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.
D8Y (p.Asp8Tyr) variant details
- p.Asp8Tyr
- rs764873714
- ClinGen CA1417588
- cosmic curated COSV55288
- ClinVar RCV002586430
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 23.60
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available