G278D (p.Gly278Asp) variant of MMAA (Q8IVH4)
G278D (p.Gly278Asp) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria, cblA type; MMAA-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G278D (p.Gly278Asp) variant details
- p.Gly278Asp
- rs761964238
- ClinGen CA3095294
- ClinVar RCV000667825
- ClinVar RCV003403549
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria, cblA type; MMAA-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria, cblA type; MMAA-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)