P129T (p.Pro129Thr) variant of IL2RA (P01589)
P129T (p.Pro129Thr) in IL2RA (P01589) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P129T (p.Pro129Thr) variant details
- p.Pro129Thr
- cosmic curated COSV99906
- ExAC rs772563186
- gnomAD rs772563186
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.0003)
- Structural context available