N49S (p.Asn49Ser) variant of IL4R (P24394)
N49S (p.Asn49Ser) in IL4R (P24394) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
N49S (p.Asn49Ser) variant details
- p.Asn49Ser
- rs747063458
- NCI-TCGA Cosmic COSV5018
- cosmic curated COSV50183
- ExAC rs747063458
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0533
- REVEL 0.05
- CADD 0.42
- PolyPhen-2 0.01
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available