D117N (p.Asp117Asn) variant of IL2RA (P01589)
D117N (p.Asp117Asn) in IL2RA (P01589) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D117N (p.Asp117Asn) variant details
- p.Asp117Asn
- TOPMed rs1392523029
- gnomAD rs1392523029
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.03
- CADD 9.74
- PolyPhen-2 0.26
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available