A78T (p.Ala78Thr) variant of ADA (Adenosine deaminase)
A78T (p.Ala78Thr) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- TOPMed rs1445758422
- gnomAD rs1445758422
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.87
- CADD 26.20
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available