T35M (p.Thr35Met) variant of HMBS (Porphobilinogen deaminase)
T35M (p.Thr35Met) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Acute intermittent porphyria. 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.
T35M (p.Thr35Met) variant details
- p.Thr35Met
- rs974712040
- ClinGen CA229593101
- NCI-TCGA Cosmic COSV5382
- cosmic curated COSV53828
- Likely pathogenic
- not provided; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.77
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Cited in: Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion… (PMID 11013452)
- Cited in: From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria. (PMID 29360981)