R10M (p.Arg10Met) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R10M (p.Arg10Met) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R10M (p.Arg10Met) variant details
- p.Arg10Met
- rs755416119
- gnomAD 5-119452785-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.17
- MetaLR 0.21
- MetaSVM -0.85
- CADD 17.60
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available