R81M (p.Arg81Met) variant of ADA (Adenosine deaminase)
R81M (p.Arg81Met) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R81M (p.Arg81Met) variant details
- p.Arg81Met
- gnomAD rs1425739099
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.95
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available