H124N (p.His124Asn) variant of IL2RA (P01589)
H124N (p.His124Asn) in IL2RA (P01589) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H124N (p.His124Asn) variant details
- p.His124Asn
- gnomAD 10-6021691-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.21
- MetaLR 0.10
- MetaSVM -0.94
- CADD 23.30
- PolyPhen-2 0.43
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available