S55A (p.Ser55Ala) variant of FANCD2 (Fanconi anemia group D2 protein)
S55A (p.Ser55Ala) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data and structural context.
S55A (p.Ser55Ala) variant details
- p.Ser55Ala
- TOPMed rs1005274331
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.66
- ClinVar: Uncertain significance (Fanconi anemia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available