V188G (p.Val188Gly) variant of MMAB (Q96EY8)
V188G (p.Val188Gly) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V188G (p.Val188Gly) variant details
- p.Val188Gly
- rs869320654
- ClinGen CA358789
- ClinVar RCV000210838
- Ensembl rs869320654
- Pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.58
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)