R9H (p.Arg9His) variant of IL2RB (P14784)
R9H (p.Arg9His) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, 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 0.23 / 1. The record also includes population frequency data.
R9H (p.Arg9His) variant details
- p.Arg9His
- rs147593802
- ClinGen CA10216782
- ClinVar RCV001935168
- 1000Genomes rs147593802
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.29
- CADD 0.72
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)