G125R (p.Gly125Arg) variant of MMADHC (Q9H3L0)
G125R (p.Gly125Arg) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Disorders of Intracellular Cobalamin Metabolism; Methylmalonic aciduria and homo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G125R (p.Gly125Arg) variant details
- p.Gly125Arg
- rs760971849
- ClinGen CA1902417
- ClinVar RCV001135920
- ClinVar RCV001135921
- Uncertain significance
- Disorders of Intracellular Cobalamin Metabolism; Methylmalonic aciduria and homo
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.56
- CADD 22.60
- PolyPhen-2 0.66
- SIFT 0.10
- ClinVar: Uncertain significance (Disorders of Intracellular Cobalamin Metabolism; Methylmalonic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)