S53R (p.Ser53Arg) variant of FANCA (Fanconi anemia group A protein)
S53R (p.Ser53Arg) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- TOPMed rs1437967277
- gnomAD rs1437967277
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.07
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available