V220M (p.Val220Met) variant of MMAA (Q8IVH4)
V220M (p.Val220Met) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of MMAA-related disorder; Methylmalonic acidemia; Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V220M (p.Val220Met) variant details
- p.Val220Met
- rs150376474
- ClinGen CA3095228
- NCI-TCGA Cosmic COSV5558
- cosmic curated COSV99849
- Pathogenic/Likely pathogenic
- MMAA-related disorder; Methylmalonic acidemia; Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (MMAA-related disorder; Methylmalonic acidemia; Methylmalonic aci)
- EBI: Pathogenic (in MACA)
- UniProt: Pathogenic (in MACA)
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- 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)