V5D (p.Val5Asp) variant of MMACHC (Q9Y4U1)
V5D (p.Val5Asp) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V5D (p.Val5Asp) variant details
- p.Val5Asp
- rs780981680
- ClinGen CA827596
- ClinVar RCV001899154
- ExAC rs780981680
- Uncertain significance
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.72
- CADD 24.50
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (Cobalamin C disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)