W8C (p.Trp8Cys) variant of IL2RB (P14784)
W8C (p.Trp8Cys) 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 0.31 / 1. The record also includes population frequency data.
W8C (p.Trp8Cys) variant details
- p.Trp8Cys
- rs1351067152
- gnomAD rs1351067152
- ClinGen CA411429806
- ClinVar RCV001903329
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.34
- CADD 8.96
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)