Y23C (p.Tyr23Cys) variant of MCCC2 (Q9HCC0)
Y23C (p.Tyr23Cys) 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 0.74 / 1. The record also includes population frequency data and structural context.
Y23C (p.Tyr23Cys) variant details
- p.Tyr23Cys
- rs1238687077
- ClinGen CA360001925
- ClinVar RCV003499030
- TOPMed rs1238687077
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.80
- CADD 28.10
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available