L42I (p.Leu42Ile) variant of HMBS (Porphobilinogen deaminase)
L42I (p.Leu42Ile) in HMBS (Porphobilinogen deaminase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L42I (p.Leu42Ile) variant details
- p.Leu42Ile
- rs1359742005
- gnomAD 11-119088669-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 23.70
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Literature evidence available