A676T (p.Ala676Thr) variant of MMUT (P22033)
A676T (p.Ala676Thr) 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 methylmalonyl-CoA mutase deficiency; Methylmalonic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A676T (p.Ala676Thr) variant details
- p.Ala676Thr
- rs147715336
- ClinGen CA3846675
- ClinVar RCV000696572
- ClinVar RCV001376641
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; Methylmalonic
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.88
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)