I36M (p.Ile36Met) variant of ADA (Adenosine deaminase)
I36M (p.Ile36Met) in ADA (Adenosine deaminase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I36M (p.Ile36Met) variant details
- p.Ile36Met
- ExAC rs748611869
- TOPMed rs748611869
- gnomAD rs748611869
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.56
- CADD 14.30
- PolyPhen-2 0.32
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available