L12F (p.Leu12Phe) variant of IL2RB (P14784)
L12F (p.Leu12Phe) 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 0.30 / 1. The record also includes population frequency data.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- ExAC rs758438266
- TOPMed rs758438266
- gnomAD rs758438266
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.28
- CADD 17.10
- PolyPhen-2 0.20
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)