L130I (p.Leu130Ile) variant of IL2RB (P14784)
L130I (p.Leu130Ile) 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 0.38 / 1. The record also includes population frequency data.
L130I (p.Leu130Ile) variant details
- p.Leu130Ile
- rs146185118
- ClinGen CA10216652
- ClinVar RCV002770604
- ESP rs146185118
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.28
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)