G147R (p.Gly147Arg) variant of MMAA (Q8IVH4)
G147R (p.Gly147Arg) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data and structural context.
G147R (p.Gly147Arg) variant details
- p.Gly147Arg
- TOPMed rs1290643961
- gnomAD rs1290643961
- Uncertain significance
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblA type)
- UniProt: Uncertain significance (in MACA)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available