Y79C (p.Tyr79Cys) variant of MCCC1 (Q96RQ3)
Y79C (p.Tyr79Cys) in MCCC1 (Q96RQ3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MCC1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Y79C (p.Tyr79Cys) variant details
- p.Tyr79Cys
- UniProt VAR 077284
- Pathogenic
- in MCC1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.95
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC… (PMID 25382614)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)