P58H (p.Pro58His) variant of IL2RG (P31785)
P58H (p.Pro58His) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P58H (p.Pro58His) variant details
- p.Pro58His
- rs2092255514
- gnomAD X-71108337-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 10.50
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available