T59I (p.Thr59Ile) variant of HMBS (Porphobilinogen deaminase)
T59I (p.Thr59Ile) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T59I (p.Thr59Ile) variant details
- p.Thr59Ile
- rs761004837
- ClinGen CA6313956
- ClinVar RCV002041322
- UniProt VAR 074152
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.54
- ESM-1b 0.49
- AlphaMissense 0.17
- CADD 21.00
- PolyPhen-2 0.10
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in AIP)
- UniProt: Uncertain significance (in AIP)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which… (PMID 18406650)
- Cited in: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)