I82N (p.Ile82Asn) variant of ADA (Adenosine deaminase)
I82N (p.Ile82Asn) 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.
I82N (p.Ile82Asn) variant details
- p.Ile82Asn
- gnomAD rs1192450607
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.90
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available