L32S (p.Leu32Ser) variant of HSD17B3 (P37058)
L32S (p.Leu32Ser) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L32S (p.Leu32Ser) variant details
- p.Leu32Ser
- ExAC rs770305727
- TOPMed rs770305727
- gnomAD rs770305727
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.35
- MetaLR 0.38
- MetaSVM -0.56
- CADD 17.90
- PolyPhen-2 0.15
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available