D123H (p.Asp123His) variant of IL2RB (P14784)
D123H (p.Asp123His) in IL2RB (P14784) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
D123H (p.Asp123His) variant details
- p.Asp123His
- ExAC rs776022568
- gnomAD rs776022568
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.44
- CADD 8.28
- PolyPhen-2 0.53
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)