Y43C (p.Tyr43Cys) variant of IL7R (P16871)
Y43C (p.Tyr43Cys) 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 0.41 / 1. The record also includes population frequency data and structural context.
Y43C (p.Tyr43Cys) variant details
- p.Tyr43Cys
- rs373694709
- ClinGen CA3231850
- ClinVar RCV002771394
- ESP rs373694709
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.40
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available