I72F (p.Ile72Phe) variant of ADA (Adenosine deaminase)
I72F (p.Ile72Phe) in ADA (Adenosine deaminase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I72F (p.Ile72Phe) variant details
- p.Ile72Phe
- ESP rs148785262
- ExAC rs148785262
- TOPMed rs148785262
- gnomAD rs148785262
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.81
- CADD 25.90
- PolyPhen-2 0.77
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available