A555T (p.Ala555Thr) variant of MMUT (P22033)
A555T (p.Ala555Thr) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A555T (p.Ala555Thr) variant details
- p.Ala555Thr
- rs753564352
- ClinGen CA312769
- ClinVar RCV000186050
- ClinVar RCV000210837
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.85
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MIAO population (allele frequency 0.05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)