R385S (p.Arg385Ser) variant of MCCC1 (Q96RQ3)
R385S (p.Arg385Ser) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Methylcrotonyl-CoA carboxylase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R385S (p.Arg385Ser) variant details
- p.Arg385Ser
- rs119103213
- ClinGen CA234237
- ClinVar RCV000002007
- ClinVar RCV000153465
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Methylcrotonyl-CoA carboxylase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.89
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Methylcrotonyl-CoA carbox)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 10485305)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)