T109I (p.Thr109Ile) variant of MMAB (Q96EY8)
T109I (p.Thr109Ile) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T109I (p.Thr109Ile) variant details
- p.Thr109Ile
- rs762404377
- ClinGen CA6778960
- ClinVar RCV001926092
- ExAC rs762404377
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 9.26
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)