D8H (p.Asp8His) variant of LBR (Delta(14)-sterol reductase LBR)
D8H (p.Asp8His) 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 0.47 / 1. The record also includes population frequency data and structural context.
D8H (p.Asp8His) variant details
- p.Asp8His
- rs764873714
- ClinGen CA345003637
- ClinVar RCV002761216
- ExAC rs764873714
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 23.50
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available