R45W (p.Arg45Trp) variant of HSD17B3 (P37058)
R45W (p.Arg45Trp) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; HSD17B3-related disorder; Testosterone 17-beta-dehydrogenase defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R45W (p.Arg45Trp) variant details
- p.Arg45Trp
- rs139084702
- ClinGen CA5140546
- ClinVar RCV000879849
- ClinVar RCV001167680
- Conflicting interpretations
- not provided; HSD17B3-related disorder; Testosterone 17-beta-dehydrogenase defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.39
- MetaLR 0.62
- MetaSVM -0.25
- CADD 23.20
- PolyPhen-2 0.72
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (not provided; HSD17B3-related disorder; Testosterone 17-beta-deh)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available