L42M (p.Leu42Met) variant of HMBS (Porphobilinogen deaminase)
L42M (p.Leu42Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L42M (p.Leu42Met) variant details
- p.Leu42Met
- rs373652991
- ClinGen CA382888453
- ClinVar RCV002596985
- ESP rs373652991
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign (in AIP)
- UniProt: Likely benign (in AIP)
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available