G50V (p.Gly50Val) variant of IL7R (P16871)
G50V (p.Gly50Val) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- rs202083738
- ClinGen CA160087
- ClinVar RCV000121211
- ClinVar RCV001155103
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.48
- CADD 25.30
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available