D19N (p.Asp19Asn) variant of ADA (Adenosine deaminase)
D19N (p.Asp19Asn) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- cosmic curated COSV65740
- TOPMed rs1454861940
- gnomAD rs1454861940
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.84
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available