T54P (p.Thr54Pro) variant of HSD17B3 (P37058)
T54P (p.Thr54Pro) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
T54P (p.Thr54Pro) variant details
- p.Thr54Pro
- TOPMed rs1827448362
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.93
- MetaLR 0.98
- MetaSVM 1.04
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available