E44D (p.Glu44Asp) variant of ADA (Adenosine deaminase)
E44D (p.Glu44Asp) in ADA (Adenosine deaminase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- NCI-TCGA TCGA novel
- gnomAD rs2065409585
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.34
- CADD 7.85
- PolyPhen-2 0.01
- SIFT 0.25
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available