R33K (p.Arg33Lys) variant of ADA (Adenosine deaminase)
R33K (p.Arg33Lys) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R33K (p.Arg33Lys) variant details
- p.Arg33Lys
- cosmic curated COSV65740
- ExAC rs773388108
- gnomAD rs773388108
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.27
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available