R10K (p.Arg10Lys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R10K (p.Arg10Lys) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R10K (p.Arg10Lys) variant details
- p.Arg10Lys
- gnomAD 5-119452788-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -0.97
- CADD 15.20
- SIFT 0.56
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Literature evidence available