S13R (p.Ser13Arg) variant of IL4R (P24394)
S13R (p.Ser13Arg) 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 0.28 / 1. The record also includes population frequency data and structural context.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- TOPMed rs1266243839
- gnomAD rs1266243839
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.19
- CADD 23.00
- PolyPhen-2 0.50
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available