N131S (p.Asn131Ser) variant of HSD17B3 (P37058)
N131S (p.Asn131Ser) in HSD17B3 (P37058) is a missense change. 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.
N131S (p.Asn131Ser) variant details
- p.Asn131Ser
- ESP rs139029268
- ExAC rs139029268
- TOPMed rs139029268
- gnomAD rs139029268
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.88
- MetaLR 0.93
- MetaSVM 1.05
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available