T81P (p.Thr81Pro) variant of HSD17B3 (P37058)
T81P (p.Thr81Pro) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
T81P (p.Thr81Pro) variant details
- p.Thr81Pro
- rs2130733506
- ClinGen CA374126250
- ClinVar RCV001993644
- Ensembl rs2130733506
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.69
- MetaLR 0.79
- MetaSVM 0.68
- CADD 21.70
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available