V18A (p.Val18Ala) variant of IL7R (P16871)
V18A (p.Val18Ala) 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 0.24 / 1. The record also includes population frequency data and structural context.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- rs1472882776
- ClinGen CA359425974
- ClinVar RCV001953185
- TOPMed rs1472882776
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.14
- CADD 19.20
- PolyPhen-2 0.04
- SIFT 0.22
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available