S32A (p.Ser32Ala) variant of IL17RA (Interleukin-17 receptor A)
S32A (p.Ser32Ala) in IL17RA (Interleukin-17 receptor A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Immunodeficiency 51. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S32A (p.Ser32Ala) variant details
- p.Ser32Ala
- TOPMed rs1346925760
- gnomAD rs1346925760
- Uncertain significance
- Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.02
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency 51)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available