G126R (p.Gly126Arg) variant of HSD17B3 (P37058)
G126R (p.Gly126Arg) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G126R (p.Gly126Arg) variant details
- p.Gly126Arg
- rs1409554313
- ClinGen CA374125429
- ClinVar RCV003314294
- TOPMed rs1409554313
- Uncertain significance
- Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.80
- MetaLR 0.87
- MetaSVM 0.91
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available