G5S (p.Gly5Ser) variant of HMBS (Porphobilinogen deaminase)
G5S (p.Gly5Ser) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- rs1565750711
- ClinGen CA382985736
- ClinVar RCV001198784
- Ensembl rs1565750711
- Uncertain significance
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Acute intermittent porphyria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)