A19S (p.Ala19Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A19S (p.Ala19Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- TOPMed rs1304273072
- gnomAD rs1304273072
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.63
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available