A9E (p.Ala9Glu) variant of HMBS (Porphobilinogen deaminase)
A9E (p.Ala9Glu) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- rs148084355
- ClinGen CA6313828
- cosmic curated COSV53828
- ClinVar RCV000605528
- Conflicting interpretations
- not provided; not specified; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 10.60
- PolyPhen-2 0.02
- SIFT 0.86
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Acute intermittent porphyria)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)