Y107C (p.Tyr107Cys) variant of MCCC1 (Q96RQ3)
Y107C (p.Tyr107Cys) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Y107C (p.Tyr107Cys) variant details
- p.Tyr107Cys
- rs144872258
- ClinGen CA2719110
- ClinVar RCV000818875
- ESP rs144872258
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.98
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available