P4S (p.Pro4Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
P4S (p.Pro4Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- gnomAD rs1240164226
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available