A23T (p.Ala23Thr) variant of FANCA (Fanconi anemia group A protein)
A23T (p.Ala23Thr) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar 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 0.06 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- TOPMed rs2041138122
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0614
- REVEL 0.04
- CADD 4.76
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.6e-06)
- Structural context available