M52R (p.Met52Arg) variant of ADA (Adenosine deaminase)
M52R (p.Met52Arg) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
M52R (p.Met52Arg) variant details
- p.Met52Arg
- gnomAD rs934757654
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.66
- CADD 22.90
- PolyPhen-2 0.70
- SIFT 0.24
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available