D148Y (p.Asp148Tyr) variant of HSD17B3 (P37058)
D148Y (p.Asp148Tyr) in HSD17B3 (P37058) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D148Y (p.Asp148Tyr) variant details
- p.Asp148Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.44
- MetaLR 0.89
- MetaSVM 0.48
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available