D280Y (p.Asp280Tyr) variant of MCCC2 (Q9HCC0)
D280Y (p.Asp280Tyr) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
D280Y (p.Asp280Tyr) variant details
- p.Asp280Tyr
- rs119103226
- ClinGen CA251973
- cosmic curated COSV60154
- ClinVar RCV000002004
- Pathogenic/Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 17968484)
- Cited in: Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 22150417)