C62Y (p.Cys62Tyr) variant of MCCC1 (Q96RQ3)
C62Y (p.Cys62Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
C62Y (p.Cys62Tyr) variant details
- p.Cys62Tyr
- gnomAD rs1249484909
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.95
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- UniProt: Uncertain significance
- Most common in the HGDP:KALASH population (allele frequency 0.024)
- Structural context available