R10S (p.Arg10Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R10S (p.Arg10Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R10S (p.Arg10Ser) variant details
- p.Arg10Ser
- rs1204278718
- gnomAD 5-119452786-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.14
- MetaLR 0.22
- MetaSVM -0.89
- CADD 19.40
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available