N71H (p.Asn71His) variant of IL2RB (P14784)
N71H (p.Asn71His) in IL2RB (P14784) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data.
N71H (p.Asn71His) variant details
- p.Asn71His
- gnomAD rs1922017838
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.08
- CADD 18.60
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)