D123N (p.Asp123Asn) variant of IL2RB (P14784)
D123N (p.Asp123Asn) in IL2RB (P14784) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
D123N (p.Asp123Asn) variant details
- p.Asp123Asn
- ExAC rs776022568
- gnomAD rs776022568
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.23
- CADD 0.10
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)