I96T (p.Ile96Thr) variant of MMAB (Q96EY8)
I96T (p.Ile96Thr) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
I96T (p.Ile96Thr) variant details
- p.Ile96Thr
- rs864309509
- ClinGen CA347809
- ClinVar RCV000202588
- UniProt VAR 023471
- Likely pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.88
- MetaSVM 0.99
- PolyPhen-2 0.90
- SIFT 0.02
- ClinVar: Likely pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Pathogenic (in MACB)
- UniProt: Pathogenic (in MACB)
- Structural context available
- Cited in: Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PMID 15781192)
- Cited in: Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB… (PMID 17957493)