G50R (p.Gly50Arg) variant of IL7R (P16871)
G50R (p.Gly50Arg) in IL7R (P16871) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- gnomAD 5-35860917-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.47
- CADD 24.00
- PolyPhen-2 0.43
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available