G72R (p.Gly72Arg) variant of HMBS (Porphobilinogen deaminase)
G72R (p.Gly72Arg) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G72R (p.Gly72Arg) variant details
- p.Gly72Arg
- rs759414493
- ClinGen CA6313981
- ClinVar RCV002922536
- ExAC rs759414493
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available