T7N (p.Thr7Asn) variant of IL7R (P16871)
T7N (p.Thr7Asn) in IL7R (P16871) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T7N (p.Thr7Asn) variant details
- p.Thr7Asn
- gnomAD rs1162451134
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.28
- AlphaMissense 0.09
- MetaLR 0.30
- MetaSVM -0.70
- CADD 20.10
- PolyPhen-2 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available