D51N (p.Asp51Asn) variant of IL2RB (P14784)
D51N (p.Asp51Asn) in IL2RB (P14784) 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 0.36 / 1. The record also includes population frequency data.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- TOPMed rs1922070245
- gnomAD rs1922070245
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.16
- CADD 11.20
- PolyPhen-2 0.18
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)