A289V (p.Ala289Val) variant of MCCC1 (Q96RQ3)
A289V (p.Ala289Val) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A289V (p.Ala289Val) variant details
- p.Ala289Val
- rs1326114075
- ClinGen CA355327587
- ClinVar RCV003461831
- UniProt VAR 012785
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.97
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 11181649)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)