L437P (p.Leu437Pro) variant of MCCC1 (Q96RQ3)
L437P (p.Leu437Pro) 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 0.92 / 1. The record also includes published literature and structural context.
L437P (p.Leu437Pro) variant details
- p.Leu437Pro
- rs119103215
- ClinGen CA251977
- ClinVar RCV000002009
- UniProt VAR 012788
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.92
- MetaLR 0.88
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Structural context available
- Cited in: The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 11181649)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)