D3Y (p.Asp3Tyr) variant of HSD17B3 (P37058)
D3Y (p.Asp3Tyr) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D3Y (p.Asp3Tyr) variant details
- p.Asp3Tyr
- TOPMed rs1278098965
- gnomAD rs1278098965
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.24
- MetaLR 0.44
- MetaSVM -0.49
- CADD 19.80
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available