V52A (p.Val52Ala) variant of IL2RG (P31785)
V52A (p.Val52Ala) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- ExAC rs767725593
- gnomAD rs767725593
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.23
- CADD 8.36
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available