W30R (p.Trp30Arg) variant of MMACHC (Q9Y4U1)
W30R (p.Trp30Arg) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W30R (p.Trp30Arg) variant details
- p.Trp30Arg
- rs745419717
- ClinGen CA827639
- ClinVar RCV000685675
- ExAC rs745419717
- Uncertain significance
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.94
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cobalamin C disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)