V52A (p.Val52Ala) variant of HSD17B3 (P37058)
V52A (p.Val52Ala) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- ExAC rs751278659
- gnomAD rs751278659
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.89
- MetaLR 0.89
- MetaSVM 0.98
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available