T78S (p.Thr78Ser) variant of HMBS (Porphobilinogen deaminase)
T78S (p.Thr78Ser) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T78S (p.Thr78Ser) variant details
- p.Thr78Ser
- rs1565754479
- ClinGen CA382889813
- ClinVar RCV001809124
- Ensembl rs1565754479
- Uncertain significance
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Acute intermittent porphyria)
- EBI: Variant of uncertain significance (in AIP)
- UniProt: Uncertain significance (in AIP)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)