H143Y (p.His143Tyr) variant of MMUT (P22033)
H143Y (p.His143Tyr) 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 complete methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
H143Y (p.His143Tyr) variant details
- p.His143Tyr
- UniProt VAR 075382
- Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.96
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of… (PMID 17113806)
- Cited in: mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion… (PMID 10923046)