V220A (p.Val220Ala) variant of MMAA (Q8IVH4)
V220A (p.Val220Ala) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
V220A (p.Val220Ala) variant details
- p.Val220Ala
- rs941689476
- ClinGen CA107725487
- ClinVar RCV001974286
- TOPMed rs941689476
- Likely pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.88
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria, cblA type)
- EBI: Likely pathogenic (in MACA)
- UniProt: Likely pathogenic (in MACA)
- Population evidence available
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)