S173L (p.Ser173Leu) variant of MCCC2 (Q9HCC0)
S173L (p.Ser173Leu) 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.
S173L (p.Ser173Leu) variant details
- p.Ser173Leu
- rs752866557
- ClinGen CA312686
- ClinVar RCV001378263
- UniProt VAR 012795
- Pathogenic/Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- AlphaMissense 0.84
- MetaLR 0.98
- MetaSVM 1.01
- CADD 27.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the African/African-American population (allele frequency 9.7e-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)