P114Q (p.Pro114Gln) variant of ADA (Adenosine deaminase)
P114Q (p.Pro114Gln) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P114Q (p.Pro114Gln) variant details
- p.Pro114Gln
- ESP rs374166838
- ExAC rs374166838
- TOPMed rs374166838
- gnomAD rs374166838
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.77
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available