V3M (p.Val3Met) variant of MMAB (Q96EY8)
V3M (p.Val3Met) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- rs1884748119
- ClinGen CA386641652
- ClinVar RCV001113946
- Ensembl rs1884748119
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 12.40
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)