E214G (p.Glu214Gly) variant of HSD17B3 (P37058)
E214G (p.Glu214Gly) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E214G (p.Glu214Gly) variant details
- p.Glu214Gly
- rs370264627
- ClinGen CA5140318
- ClinVar RCV001167098
- ClinVar RCV003727930
- Pathogenic/Likely pathogenic
- not provided; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.25
- MetaLR 0.38
- MetaSVM -0.76
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available