Y196H (p.Tyr196His) variant of MCCC2 (Q9HCC0)
Y196H (p.Tyr196His) 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 0.72 / 1. The record also includes structural context.
Y196H (p.Tyr196His) variant details
- p.Tyr196His
- rs2112329234
- ClinGen CA360012094
- ClinVar RCV002050980
- Ensembl rs2112329234
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.26
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.44
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available