R32K (p.Arg32Lys) variant of ADA (Adenosine deaminase)
R32K (p.Arg32Lys) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R32K (p.Arg32Lys) variant details
- p.Arg32Lys
- TOPMed rs1356820014
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.29
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available