R29S (p.Arg29Ser) variant of FANCA (Fanconi anemia group A protein)
R29S (p.Arg29Ser) 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 Inborn genetic diseases; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- ExAC rs760787108
- TOPMed rs760787108
- gnomAD rs760787108
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.43
- CADD 20.60
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available