I54L (p.Ile54Leu) variant of HMBS (Porphobilinogen deaminase)
I54L (p.Ile54Leu) 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; Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I54L (p.Ile54Leu) variant details
- p.Ile54Leu
- rs368061837
- ClinGen CA6313920
- ClinVar RCV000520884
- ClinVar RCV001104610
- Uncertain significance
- not provided; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 17.60
- PolyPhen-2 0.05
- SIFT 0.68
- ClinVar: Uncertain significance (not provided; Acute intermittent porphyria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)