G16R (p.Gly16Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G16R (p.Gly16Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DBPD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- ESP rs137853096
- ExAC rs137853096
- TOPMed rs137853096
- gnomAD rs137853096
- Pathogenic
- in DBPD
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- SIFT 0.01
- EBI: Pathogenic (in DBPD)
- UniProt: Pathogenic (in DBPD)
- Structural context available