P4L (p.Pro4Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
P4L (p.Pro4Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- ESP rs142889209
- ExAC rs142889209
- TOPMed rs142889209
- gnomAD rs142889209
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.38
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available