Y12N (p.Tyr12Asn) variant of FANCC (Fanconi anemia group C protein)
Y12N (p.Tyr12Asn) 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 complementation group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Y12N (p.Tyr12Asn) variant details
- p.Tyr12Asn
- ExAC rs766173332
- gnomAD rs766173332
- Uncertain significance
- Fanconi anemia complementation group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.27
- CADD 25.50
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (Fanconi anemia complementation group C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-05)
- Structural context available