T42I (p.Thr42Ile) variant of ADA (Adenosine deaminase)
T42I (p.Thr42Ile) 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 0.77 / 1. The record also includes population frequency data and structural context.
T42I (p.Thr42Ile) variant details
- p.Thr42Ile
- ExAC rs780318972
- TOPMed rs780318972
- gnomAD rs780318972
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.77
- CADD 24.90
- PolyPhen-2 0.86
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available