V188M (p.Val188Met) variant of MMAB (Q96EY8)
V188M (p.Val188Met) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria, cblB 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.
V188M (p.Val188Met) variant details
- p.Val188Met
- rs768176676
- ClinGen CA6778828
- NCI-TCGA Cosmic COSV5716
- NCI-TCGA Cosmic COSV5717
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)