A191T (p.Ala191Thr) variant of MMUT (P22033)
A191T (p.Ala191Thr) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A191T (p.Ala191Thr) variant details
- p.Ala191Thr
- rs1313120333
- ClinGen CA364404440
- ClinVar RCV000520146
- ClinVar RCV003446136
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.82
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Likely pathogenic (in MAMM)
- UniProt: Likely pathogenic (in MAMM)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)