Q13P (p.Gln13Pro) variant of FANCA (Fanconi anemia group A protein)
Q13P (p.Gln13Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
Q13P (p.Gln13Pro) variant details
- p.Gln13Pro
- TOPMed rs1264855885
- gnomAD rs1264855885
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0967
- REVEL 0.13
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available