Y25C (p.Tyr25Cys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
Y25C (p.Tyr25Cys) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Perrault syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y25C (p.Tyr25Cys) variant details
- p.Tyr25Cys
- Ensembl rs2126610386
- Uncertain significance
- Perrault syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 11.40
- PolyPhen-2 0.89
- SIFT 0.17
- ClinVar: Uncertain significance (Perrault syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available