S6P (p.Ser6Pro) variant of IL4R (P24394)
S6P (p.Ser6Pro) in IL4R (P24394) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S6P (p.Ser6Pro) variant details
- p.Ser6Pro
- TOPMed rs1404481261
- gnomAD rs1404481261
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.09
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available