A127T (p.Ala127Thr) variant of MMAB (Q96EY8)
A127T (p.Ala127Thr) 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 0.31 / 1. The record also includes population frequency data and structural context.
A127T (p.Ala127Thr) variant details
- p.Ala127Thr
- TOPMed rs1466039282
- gnomAD rs1466039282
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 16.20
- PolyPhen-2 0.14
- SIFT 0.45
- 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 1.5e-05)
- Structural context available