S52F (p.Ser52Phe) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S52F (p.Ser52Phe) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- NCI-TCGA Cosmic COSV9982
- cosmic curated COSV99820
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.72
- MetaSVM 0.61
- CADD 24.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available