R6G (p.Arg6Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R6G (p.Arg6Gly) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- gnomAD 5-119452591-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 21.00
- PolyPhen-2 0.90
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available