M52K (p.Met52Lys) variant of ADA (Adenosine deaminase)
M52K (p.Met52Lys) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
M52K (p.Met52Lys) variant details
- p.Met52Lys
- gnomAD rs934757654
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.59
- CADD 18.30
- PolyPhen-2 0.25
- SIFT 0.34
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available