T387K (p.Thr387Lys) variant of MMUT (P22033)
T387K (p.Thr387Lys) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Methylmalonic aciduria due to 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.
T387K (p.Thr387Lys) variant details
- p.Thr387Lys
- rs1400022403
- ClinGen CA364398991
- ClinVar RCV003335854
- ClinVar RCV003777430
- Conflicting interpretations
- not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.95
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Methylmalonic aciduria due to methylmalonyl-CoA mu)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)