D292V (p.Asp292Val) variant of MMAA (Q8IVH4)
D292V (p.Asp292Val) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria, cblA type. 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.
D292V (p.Asp292Val) variant details
- p.Asp292Val
- rs1553959025
- ClinGen CA358342794
- ClinVar RCV000509040
- UniProt VAR 080026
- Pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 1.00
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria, cblA type)
- EBI: Pathogenic (in MACA)
- UniProt: Pathogenic (in MACA)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic… (PMID 28497574)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)