A4S (p.Ala4Ser) variant of IL17RA (Interleukin-17 receptor A)
A4S (p.Ala4Ser) 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 not specified. 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.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- TOPMed rs1464593132
- gnomAD rs1464593132
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.93
- CADD 6.13
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.1e-05)
- Structural context available