T33A (p.Thr33Ala) variant of LBR (Delta(14)-sterol reductase LBR)
T33A (p.Thr33Ala) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Greenberg dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T33A (p.Thr33Ala) variant details
- p.Thr33Ala
- rs200756121
- ClinGen CA1417572
- ClinVar RCV000403170
- ClinVar RCV002059447
- Conflicting interpretations
- not provided; Greenberg dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (not provided; Greenberg dysplasia)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available