P30T (p.Pro30Thr) variant of IL2RG (P31785)
P30T (p.Pro30Thr) in IL2RG (P31785) is a missense change. 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.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- ExAC rs755952194
- gnomAD rs755952194
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.27
- CADD 15.30
- PolyPhen-2 0.19
- SIFT 0.02
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available