V130L (p.Val130Leu) variant of IL2RG (P31785)
V130L (p.Val130Leu) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V130L (p.Val130Leu) variant details
- p.Val130Leu
- gnomAD rs1342024883
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.42
- CADD 19.40
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available