S44R (p.Ser44Arg) variant of IL7R (P16871)
S44R (p.Ser44Arg) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S44R (p.Ser44Arg) variant details
- p.Ser44Arg
- 1000Genomes rs11567704
- ESP rs11567704
- ExAC rs11567704
- TOPMed rs11567704
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.64
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available