A98S (p.Ala98Ser) variant of LBR (Delta(14)-sterol reductase LBR)
A98S (p.Ala98Ser) 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 0.24 / 1. The record also includes population frequency data and structural context.
A98S (p.Ala98Ser) variant details
- p.Ala98Ser
- rs770390134
- ClinGen CA1417510
- ClinVar RCV002756539
- ExAC rs770390134
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available