T387P (p.Thr387Pro) variant of MMUT (P22033)
T387P (p.Thr387Pro) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylmalonic aciduria due to complete methylmalonyl-CoA mutase de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T387P (p.Thr387Pro) variant details
- p.Thr387Pro
- rs1767556193
- ClinGen CA364398995
- ClinVar RCV001919458
- ClinVar RCV002503617
- Pathogenic/Likely pathogenic
- not provided; Methylmalonic aciduria due to complete methylmalonyl-CoA mutase de
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.98
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylmalonic aciduria due to complete methylmalon)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)