V25L (p.Val25Leu) variant of IL17RA (Interleukin-17 receptor A)
V25L (p.Val25Leu) 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; 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.
V25L (p.Val25Leu) variant details
- p.Val25Leu
- rs1297016157
- ClinGen CA410210189
- ClinVar RCV001038373
- ClinVar RCV005851671
- Uncertain significance
- Immunodeficiency 51; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.94
- CADD 5.97
- PolyPhen-2 0.03
- SIFT 0.82
- ClinVar: Uncertain significance (Immunodeficiency 51; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available