N49D (p.Asn49Asp) variant of IL4R (P24394)
N49D (p.Asn49Asp) in IL4R (P24394) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
N49D (p.Asn49Asp) variant details
- p.Asn49Asp
- gnomAD rs1390829715
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.03
- CADD 2.74
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available