P116S (p.Pro116Ser) variant of ADA (Adenosine deaminase)
P116S (p.Pro116Ser) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P116S (p.Pro116Ser) variant details
- p.Pro116Ser
- cosmic curated COSV10530
- ExAC rs759962237
- gnomAD rs759962237
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.65
- CADD 22.40
- PolyPhen-2 0.61
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available