L130F (p.Leu130Phe) variant of IL2RB (P14784)
L130F (p.Leu130Phe) in IL2RB (P14784) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
L130F (p.Leu130Phe) variant details
- p.Leu130Phe
- rs146185118
- NCI-TCGA Cosmic COSV9934
- ESP rs146185118
- ExAC rs146185118
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.69
- CADD 22.80
- PolyPhen-2 0.69
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)