L128S (p.Leu128Ser) variant of HSD17B3 (P37058)
L128S (p.Leu128Ser) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
L128S (p.Leu128Ser) variant details
- p.Leu128Ser
- rs767765046
- ClinGen CA5140445
- ClinVar RCV000581861
- ClinVar RCV005431780
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.05
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available