N27K (p.Asn27Lys) variant of IL7R (P16871)
N27K (p.Asn27Lys) 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 0.21 / 1. The record also includes population frequency data and structural context.
N27K (p.Asn27Lys) variant details
- p.Asn27Lys
- rs753451294
- ClinGen CA3231824
- ClinVar RCV000640057
- ExAC rs753451294
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.18
- CADD 23.30
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available