S54P (p.Ser54Pro) variant of IL7R (P16871)
S54P (p.Ser54Pro) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S54P (p.Ser54Pro) variant details
- p.Ser54Pro
- rs1002396899
- ClinVar RCV000766123
- TOPMed rs1002396899
- gnomAD rs1002396899
- no classification for the single variant
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.43
- CADD 19.20
- PolyPhen-2 0.80
- SIFT 0.04
- ClinVar: no classification for the single variant
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available