S6F (p.Ser6Phe) variant of IL4R (P24394)
S6F (p.Ser6Phe) 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 0.20 / 1. The record also includes population frequency data and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- rs151179009
- ESP rs151179009
- ExAC rs151179009
- TOPMed rs151179009
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.08
- CADD 21.70
- PolyPhen-2 0.75
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 0.00019)
- Structural context available