G133R (p.Gly133Arg) variant of HSD17B3 (P37058)
G133R (p.Gly133Arg) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudohermaphroditism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G133R (p.Gly133Arg) variant details
- p.Gly133Arg
- rs747724352
- ClinGen CA5140428
- cosmic curated COSV64556
- ClinVar RCV000583122
- Pathogenic
- Pseudohermaphroditism
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.90
- MetaLR 0.97
- MetaSVM 1.04
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Pseudohermaphroditism)
- EBI: Pathogenic (in MPH)
- UniProt: Pathogenic (in MPH)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant… (PMID 26545797)
- Cited in: Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 11158067)