S3L (p.Ser3Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S3L (p.Ser3Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- cosmic curated COSV56334
- gnomAD rs1754154087
- Uncertain significance
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.09
- ESM-1b 0.82
- AlphaMissense 0.10
- CADD 16.10
- PolyPhen-2 0.20
- SIFT 0.24
- ClinVar: Uncertain significance (Bifunctional peroxisomal enzyme deficiency)
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available