H30Y (p.His30Tyr) variant of LBR (Delta(14)-sterol reductase LBR)
H30Y (p.His30Tyr) 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.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- rs2096133891
- ClinGen CA345003150
- ClinVar RCV003842566
- Ensembl rs2096133891
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available