I22F (p.Ile22Phe) variant of ADA (Adenosine deaminase)
I22F (p.Ile22Phe) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
I22F (p.Ile22Phe) variant details
- p.Ile22Phe
- gnomAD rs1321058509
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.83
- CADD 23.80
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available