G237R (p.Gly237Arg) variant of MCCC2 (Q9HCC0)
G237R (p.Gly237Arg) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G237R (p.Gly237Arg) variant details
- p.Gly237Arg
- rs781559418
- ClinGen CA359983581
- ClinVar RCV000556717
- ExAC rs781559418
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely pathogenic (in MCC2D)
- UniProt: Likely pathogenic (in MCC2D)
- Structural context available