E24G (p.Glu24Gly) variant of FANCA (Fanconi anemia group A protein)
E24G (p.Glu24Gly) 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 0.35 / 1. The record also includes population frequency data and structural context.
E24G (p.Glu24Gly) variant details
- p.Glu24Gly
- Ensembl rs2143730844
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.26
- CADD 26.00
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available