N49H (p.Asn49His) variant of IL4R (P24394)
N49H (p.Asn49His) in IL4R (P24394) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N49H (p.Asn49His) variant details
- p.Asn49His
- gnomAD rs1390829715
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.12
- CADD 14.40
- PolyPhen-2 0.46
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available