Y96H (p.Tyr96His) variant of MCCC1 (Q96RQ3)
Y96H (p.Tyr96His) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y96H (p.Tyr96His) variant details
- p.Tyr96His
- cosmic curated COSV55606
- ExAC rs761930069
- TOPMed rs761930069
- gnomAD rs761930069
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.61
- CADD 22.60
- PolyPhen-2 0.25
- SIFT 0.04
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency; not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00087)
- Structural context available