G99R (p.Gly99Arg) variant of MCCC1 (Q96RQ3)
G99R (p.Gly99Arg) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G99R (p.Gly99Arg) variant details
- p.Gly99Arg
- ESP rs375244642
- ExAC rs375244642
- TOPMed rs375244642
- gnomAD rs375244642
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.96
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available