A127D (p.Ala127Asp) variant of MMAB (Q96EY8)
A127D (p.Ala127Asp) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A127D (p.Ala127Asp) variant details
- p.Ala127Asp
- rs778169806
- ClinGen CA6778927
- ClinVar RCV001527449
- ExAC rs778169806
- Likely pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.50
- CADD 20.40
- PolyPhen-2 0.09
- SIFT 0.46
- ClinVar: Likely pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)