D7Y (p.Asp7Tyr) variant of FANCC (Fanconi anemia group C protein)
D7Y (p.Asp7Tyr) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D7Y (p.Asp7Tyr) variant details
- p.Asp7Tyr
- NCI-TCGA Cosmic COSV5666
- cosmic curated COSV56667
- TOPMed rs1831181577
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.14
- CADD 16.30
- PolyPhen-2 0.46
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available