E67K (p.Glu67Lys) variant of HSD17B3 (P37058)
E67K (p.Glu67Lys) 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 0.67 / 1. The record also includes population frequency data and structural context.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- rs1017003712
- ClinGen CA10627745
- NCI-TCGA Cosmic COSV6455
- cosmic curated COSV64558
- Uncertain significance
- Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.69
- AlphaMissense 0.60
- MetaLR 0.66
- MetaSVM 0.37
- CADD 23.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available