A27V (p.Ala27Val) variant of IL17RA (Interleukin-17 receptor A)
A27V (p.Ala27Val) in IL17RA (Interleukin-17 receptor A) is a missense change. Clinical records from ClinVar, EBI, 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 0.11 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- TOPMed rs1490955421
- gnomAD rs1490955421
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.94
- CADD 15.90
- PolyPhen-2 0.08
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available