G214A (p.Gly214Ala) variant of MCCC2 (Q9HCC0)
G214A (p.Gly214Ala) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 3-methylcrotonyl-CoA carboxylase 2 deficiency; Methylcrotonyl-CoA. 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.
G214A (p.Gly214Ala) variant details
- p.Gly214Ala
- rs277995
- ClinGen CA3297833
- ClinVar RCV000805067
- ClinVar RCV001546546
- Pathogenic/Likely pathogenic
- not provided; 3-methylcrotonyl-CoA carboxylase 2 deficiency; Methylcrotonyl-CoA
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.98
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; 3-methylcrotonyl-CoA carboxylase 2 deficiency; Met)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the REMAINING population (allele frequency 0.0002)
- 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)