S6C (p.Ser6Cys) variant of IL4R (P24394)
S6C (p.Ser6Cys) in IL4R (P24394) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- ESP rs151179009
- ExAC rs151179009
- TOPMed rs151179009
- gnomAD rs151179009
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.10
- CADD 17.00
- PolyPhen-2 0.75
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available