N48D (p.Asn48Asp) variant of IL2RA (P01589)
N48D (p.Asn48Asp) in IL2RA (P01589) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N48D (p.Asn48Asp) variant details
- p.Asn48Asp
- ExAC rs745686694
- gnomAD rs745686694
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.12
- CADD 8.27
- PolyPhen-2 0.05
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available