V60F (p.Val60Phe) variant of IL2RG (P31785)
V60F (p.Val60Phe) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V60F (p.Val60Phe) variant details
- p.Val60Phe
- Ensembl rs2147750995
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.68
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available