Y35S (p.Tyr35Ser) variant of FANCA (Fanconi anemia group A protein)
Y35S (p.Tyr35Ser) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
Y35S (p.Tyr35Ser) variant details
- p.Tyr35Ser
- TOPMed rs1460652102
- gnomAD rs1460652102
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0583
- REVEL 0.04
- CADD 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available