R34T (p.Arg34Thr) variant of ADA (Adenosine deaminase)
R34T (p.Arg34Thr) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R34T (p.Arg34Thr) variant details
- p.Arg34Thr
- TOPMed rs1251027847
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.71
- CADD 25.10
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available