P129S (p.Pro129Ser) variant of IL2RA (P01589)
P129S (p.Pro129Ser) 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 0.34 / 1. The record also includes population frequency data and structural context.
P129S (p.Pro129Ser) variant details
- p.Pro129Ser
- NCI-TCGA Cosmic COSV5692
- cosmic curated COSV56922
- NCI-TCGA Cosmic COSV9990
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.30
- CADD 22.60
- PolyPhen-2 0.90
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available