A6P (p.Ala6Pro) variant of ADA (Adenosine deaminase)
A6P (p.Ala6Pro) 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 0.42 / 1. The record also includes population frequency data and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- TOPMed rs956908942
- gnomAD rs956908942
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.50
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available