N137S (p.Asn137Ser) variant of HSD17B3 (P37058)
N137S (p.Asn137Ser) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N137S (p.Asn137Ser) variant details
- p.Asn137Ser
- TOPMed rs1181298867
- gnomAD rs1181298867
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.17
- MetaLR 0.23
- MetaSVM -0.81
- CADD 5.85
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available