G559D (p.Gly559Asp) variant of MCCC2 (Q9HCC0)
G559D (p.Gly559Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G559D (p.Gly559Asp) variant details
- p.Gly559Asp
- rs1747595026
- ClinGen CA360004869
- ClinVar RCV002640732
- ClinVar RCV004719302
- Pathogenic/Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.83
- CADD 23.60
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available