G66R (p.Gly66Arg) variant of MMADHC (Q9H3L0)
G66R (p.Gly66Arg) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria and homocystinuria type cblD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G66R (p.Gly66Arg) variant details
- p.Gly66Arg
- rs1334273037
- TOPMed rs1334273037
- ClinGen CA348870867
- ClinVar RCV001982314
- Uncertain significance
- Methylmalonic aciduria and homocystinuria type cblD
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.93
- MetaLR 0.86
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (Methylmalonic aciduria and homocystinuria type cblD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)