E24V (p.Glu24Val) variant of FANCA (Fanconi anemia group A protein)
E24V (p.Glu24Val) 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 Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E24V (p.Glu24Val) variant details
- p.Glu24Val
- Ensembl rs2143730844
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.31
- CADD 24.70
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi anemia)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available