C35Y (p.Cys35Tyr) variant of FANCC (Fanconi anemia group C protein)
C35Y (p.Cys35Tyr) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
C35Y (p.Cys35Tyr) variant details
- p.Cys35Tyr
- rs143212932
- ClinGen CA374340324
- ClinVar RCV001042157
- 1000Genomes rs143212932
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.59
- CADD 25.00
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)