S152N (p.Ser152Asn) variant of HSD17B3 (P37058)
S152N (p.Ser152Asn) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S152N (p.Ser152Asn) variant details
- p.Ser152Asn
- gnomAD rs1275902342
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.20
- MetaLR 0.22
- MetaSVM -0.85
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available