N27H (p.Asn27His) variant of IL7R (P16871)
N27H (p.Asn27His) in IL7R (P16871) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N27H (p.Asn27His) variant details
- p.Asn27His
- TOPMed rs1208455689
- gnomAD rs1208455689
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.21
- CADD 24.40
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available