E44G (p.Glu44Gly) variant of ADA (Adenosine deaminase)
E44G (p.Glu44Gly) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- Ensembl rs2145324827
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.47
- CADD 19.30
- PolyPhen-2 0.86
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available