Y520C (p.Tyr520Cys) variant of MCCC2 (Q9HCC0)
Y520C (p.Tyr520Cys) 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 0.80 / 1. The record also includes population frequency data and structural context.
Y520C (p.Tyr520Cys) variant details
- p.Tyr520Cys
- rs150327768
- ClinGen CA3298192
- ClinVar RCV003470074
- ESP rs150327768
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.97
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available