D110Y (p.Asp110Tyr) variant of HSD17B3 (P37058)
D110Y (p.Asp110Tyr) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D110Y (p.Asp110Tyr) variant details
- p.Asp110Tyr
- rs150424854
- ClinGen CA5140451
- ClinVar RCV001167678
- ClinVar RCV005348335
- Uncertain significance
- Inborn genetic diseases; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.52
- MetaLR 0.62
- MetaSVM 0.28
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Testosterone 17-beta-dehydrogenase defi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)