L42S (p.Leu42Ser) variant of HMBS (Porphobilinogen deaminase)
L42S (p.Leu42Ser) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L42S (p.Leu42Ser) variant details
- p.Leu42Ser
- rs2497426310
- ClinGen CA382888459
- ClinVar RCV003062462
- UniProt VAR 011007
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available
- Cited in: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)
- Cited in: Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria… (PMID 10494093)