P4A (p.Pro4Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
P4A (p.Pro4Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P4A (p.Pro4Ala) variant details
- p.Pro4Ala
- rs1381968795
- gnomAD 5-119452772-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.92
- CADD 10.30
- SIFT 0.61
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available