A40T (p.Ala40Thr) variant of FANCA (Fanconi anemia group A protein)
A40T (p.Ala40Thr) 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 0.12 / 1. The record also includes population frequency data and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- ExAC rs754419548
- gnomAD rs754419548
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.04
- CADD 8.76
- PolyPhen-2 0.04
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available