T81M (p.Thr81Met) variant of HSD17B3 (P37058)
T81M (p.Thr81Met) 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; Differences in sex development; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
T81M (p.Thr81Met) variant details
- p.Thr81Met
- cosmic curated COSV64556
- ExAC rs746859258
- TOPMed rs746859258
- gnomAD rs746859258
- Conflicting interpretations
- not provided; Differences in sex development; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.64
- MetaLR 0.87
- MetaSVM 0.89
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Differences in sex development; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available