T63I (p.Thr63Ile) variant of MMUT (P22033)
T63I (p.Thr63Ile) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T63I (p.Thr63Ile) variant details
- p.Thr63Ile
- rs1767776360
- ClinGen CA364405445
- ClinVar RCV001250103
- TOPMed rs1767776360
- Uncertain significance
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.98
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)