H33L (p.His33Leu) variant of IL2RA (P01589)
H33L (p.His33Leu) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H33L (p.His33Leu) variant details
- p.His33Leu
- rs761518137
- ClinGen CA5397545
- cosmic curated COSV99906
- ClinVar RCV004405236
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- AlphaMissense 0.20
- MetaLR 0.09
- MetaSVM -1.04
- PolyPhen-2 0.01
- SIFT 0.04
- EVE 0.48
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available