P58L (p.Pro58Leu) variant of IL2RG (P31785)
P58L (p.Pro58Leu) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- gnomAD X-71108325-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available