A3V (p.Ala3Val) variant of IL17RA (Interleukin-17 receptor A)
A3V (p.Ala3Val) 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 Immunodeficiency 51. 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.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs567320041
- ClinGen CA321139713
- ClinVar RCV000799938
- 1000Genomes rs567320041
- Uncertain significance
- Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.92
- CADD 8.34
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available