Y35C (p.Tyr35Cys) variant of FANCA (Fanconi anemia group A protein)
Y35C (p.Tyr35Cys) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
Y35C (p.Tyr35Cys) variant details
- p.Tyr35Cys
- TOPMed rs1460652102
- gnomAD rs1460652102
- Missense
- Variant Prioritization Score for Impact Estimate 0.0364
- REVEL 0.02
- CADD 0.14
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available