S99N (p.Ser99Asn) variant of HSD17B3 (P37058)
S99N (p.Ser99Asn) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S99N (p.Ser99Asn) variant details
- p.Ser99Asn
- 1000Genomes rs569337274
- ExAC rs569337274
- TOPMed rs569337274
- gnomAD rs569337274
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.09
- MetaLR 0.52
- MetaSVM -0.47
- CADD 6.55
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available