S53G (p.Ser53Gly) variant of FANCA (Fanconi anemia group A protein)
S53G (p.Ser53Gly) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
S53G (p.Ser53Gly) variant details
- p.Ser53Gly
- ExAC rs61757383
- TOPMed rs61757383
- gnomAD rs61757383
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0469
- REVEL 0.04
- CADD 0.31
- PolyPhen-2 0.00
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available