T370P (p.Thr370Pro) variant of MMUT (P22033)
T370P (p.Thr370Pro) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
T370P (p.Thr370Pro) variant details
- p.Thr370Pro
- rs368790885
- ClinGen CA312765
- ClinVar RCV000186047
- UniProt VAR 026613
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.99
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)
- Cited in: mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion… (PMID 10923046)