D123N (p.Asp123Asn) variant of MMAB (Q96EY8)
D123N (p.Asp123Asn) 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 0.77 / 1. The record also includes population frequency data and structural context.
D123N (p.Asp123Asn) variant details
- p.Asp123Asn
- TOPMed rs1459109378
- gnomAD rs1459109378
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 25.80
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available