S152I (p.Ser152Ile) variant of HSD17B3 (P37058)
S152I (p.Ser152Ile) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S152I (p.Ser152Ile) variant details
- p.Ser152Ile
- gnomAD rs1275902342
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.53
- MetaLR 0.54
- MetaSVM -0.36
- CADD 20.10
- SIFT 0.05
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available