Y520S (p.Tyr520Ser) variant of MCCC2 (Q9HCC0)
Y520S (p.Tyr520Ser) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Y520S (p.Tyr520Ser) variant details
- p.Tyr520Ser
- rs150327768
- ClinGen CA3298191
- ClinVar RCV000542781
- ClinVar RCV001271411
- Pathogenic/Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.98
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. (PMID 21071250)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)