A134V (p.Ala134Val) variant of IL2RB (P14784)
A134V (p.Ala134Val) in IL2RB (P14784) is a missense change. Clinical records from ClinVar 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 0.66 / 1. The record also includes population frequency data.
A134V (p.Ala134Val) variant details
- p.Ala134Val
- 1000Genomes rs201441730
- ExAC rs201441730
- TOPMed rs201441730
- gnomAD rs201441730
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.60
- CADD 25.10
- PolyPhen-2 0.53
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)