A5V (p.Ala5Val) variant of IL2RB (P14784)
A5V (p.Ala5Val) 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 0.35 / 1. The record also includes population frequency data.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- TOPMed rs148235304
- gnomAD rs148235304
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.40
- CADD 16.70
- PolyPhen-2 0.45
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)