A218S (p.Ala218Ser) variant of MCCC2 (Q9HCC0)
A218S (p.Ala218Ser) 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 0.86 / 1. The record also includes population frequency data and structural context.
A218S (p.Ala218Ser) variant details
- p.Ala218Ser
- rs886043524
- ClinGen CA359983214
- ClinVar RCV003018458
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.93
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely pathogenic (in MCC2D)
- UniProt: Likely pathogenic (in MCC2D)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available