G20D (p.Gly20Asp) variant of MMACHC (Q9Y4U1)
G20D (p.Gly20Asp) in MMACHC (Q9Y4U1) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- rs375909359
- ClinGen CA21825955
- ClinVar RCV001099136
- ESP rs375909359
- Uncertain significance
- Disorders of Intracellular Cobalamin Metabolism
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.93
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Disorders of Intracellular Cobalamin Metabolism)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)