A524T (p.Ala524Thr) variant of MCCC2 (Q9HCC0)
A524T (p.Ala524Thr) 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; Methylcrotonyl-CoA carboxylase de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A524T (p.Ala524Thr) variant details
- p.Ala524Thr
- rs774241918
- ClinGen CA3298195
- NCI-TCGA Cosmic COSV6015
- Pathogenic/Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency; Methylcrotonyl-CoA carboxylase de
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.92
- AlphaMissense 0.92
- MetaLR 0.94
- MetaSVM 1.10
- CADD 24.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency; Methylcrotonyl-Co)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. (PMID 27601257)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)