S72G (p.Ser72Gly) variant of IL2RA (P01589)
S72G (p.Ser72Gly) in IL2RA (P01589) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S72G (p.Ser72Gly) variant details
- p.Ser72Gly
- NCI-TCGA Cosmic COSV5691
- cosmic curated COSV56919
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.09
- CADD 15.70
- PolyPhen-2 0.99
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available