R131H (p.Arg131His) variant of IL2RB (P14784)
R131H (p.Arg131His) in IL2RB (P14784) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
R131H (p.Arg131His) variant details
- p.Arg131His
- NCI-TCGA Cosmic COSV5342
- TOPMed rs1160622087
- gnomAD rs1160622087
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.72
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)