P70S (p.Pro70Ser) variant of ADA (Adenosine deaminase)
P70S (p.Pro70Ser) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- TOPMed rs968895664
- gnomAD rs968895664
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.77
- CADD 24.60
- PolyPhen-2 0.87
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available