T96A (p.Thr96Ala) variant of HSD17B3 (P37058)
T96A (p.Thr96Ala) in HSD17B3 (P37058) is a missense change. 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.
T96A (p.Thr96Ala) variant details
- p.Thr96Ala
- cosmic curated COSV64558
- TOPMed rs1368601617
- gnomAD rs1368601617
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.33
- MetaLR 0.35
- MetaSVM -0.67
- CADD 18.90
- PolyPhen-2 0.26
- SIFT 0.03
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available