N53S (p.Asn53Ser) variant of IL4R (P24394)
N53S (p.Asn53Ser) in IL4R (P24394) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- ESP rs201852059
- ExAC rs201852059
- TOPMed rs201852059
- gnomAD rs201852059
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.11
- CADD 21.30
- PolyPhen-2 0.34
- SIFT 0.01
- Most common in the HGDP:NORTHERNHAN population (allele frequency 0.05)
- Structural context available