A63V (p.Ala63Val) variant of HSD17B3 (P37058)
A63V (p.Ala63Val) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- TOPMed rs1220119827
- gnomAD rs1220119827
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.83
- MetaLR 0.91
- MetaSVM 1.00
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available