R6W (p.Arg6Trp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R6W (p.Arg6Trp) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- gnomAD 5-119452591-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.44
- CADD 18.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available