H17Q (p.His17Gln) variant of ADA (Adenosine deaminase)
H17Q (p.His17Gln) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
H17Q (p.His17Gln) variant details
- p.His17Gln
- TOPMed rs1379847464
- gnomAD rs1379847464
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.95
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available