G99S (p.Gly99Ser) variant of MCCC1 (Q96RQ3)
G99S (p.Gly99Ser) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G99S (p.Gly99Ser) variant details
- p.Gly99Ser
- ESP rs375244642
- ExAC rs375244642
- TOPMed rs375244642
- gnomAD rs375244642
- Conflicting interpretations
- not specified; 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.91
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; 3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available