A129V (p.Ala129Val) variant of MMAB (Q96EY8)
A129V (p.Ala129Val) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; 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 and structural context.
A129V (p.Ala129Val) variant details
- p.Ala129Val
- 1000Genomes rs201189970
- ESP rs201189970
- ExAC rs201189970
- TOPMed rs201189970
- Uncertain significance
- Inborn genetic diseases; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 27.20
- PolyPhen-2 0.84
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available