L47S (p.Leu47Ser) variant of IL2RA (P01589)
L47S (p.Leu47Ser) in IL2RA (P01589) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L47S (p.Leu47Ser) variant details
- p.Leu47Ser
- ExAC rs769549397
- gnomAD rs769549397
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.42
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available