D60A (p.Asp60Ala) variant of ADA (Adenosine deaminase)
D60A (p.Asp60Ala) 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 0.18 / 1. The record also includes population frequency data and structural context.
D60A (p.Asp60Ala) variant details
- p.Asp60Ala
- ExAC rs760262095
- TOPMed rs760262095
- gnomAD rs760262095
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.26
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available