D50G (p.Asp50Gly) variant of MMADHC (Q9H3L0)
D50G (p.Asp50Gly) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- rs748278993
- ClinGen CA1902493
- ClinVar RCV003081841
- ExAC rs748278993
- Uncertain significance
- Methylmalonic aciduria and homocystinuria type cblD
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.79
- CADD 27.40
- PolyPhen-2 0.21
- SIFT 0.01
- ClinVar: Uncertain significance (Methylmalonic aciduria and homocystinuria type cblD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)