A40T (p.Ala40Thr) variant of FAN1 (Fanconi-associated nuclease 1)
A40T (p.Ala40Thr) in FAN1 (Fanconi-associated nuclease 1) 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 0.31 / 1. The record also includes population frequency data and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- ExAC rs774562404
- TOPMed rs774562404
- gnomAD rs774562404
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.30
- CADD 22.20
- PolyPhen-2 0.74
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available