L36V (p.Leu36Val) variant of IL17RA (Interleukin-17 receptor A)
L36V (p.Leu36Val) 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; Immunodeficiency 51. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- rs2061321959
- ClinGen CA410210249
- ClinVar RCV001348959
- ClinVar RCV005851851
- Uncertain significance
- not specified; Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -1.03
- CADD 20.60
- PolyPhen-2 0.97
- SIFT 0.10
- ClinVar: Uncertain significance (not specified; Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available