P14R (p.Pro14Arg) variant of IL17RA (Interleukin-17 receptor A)
P14R (p.Pro14Arg) 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 0.31 / 1. The record also includes structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- rs1601332814
- ClinGen CA410210135
- ClinVar RCV002966360
- Uncertain significance
- Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- AlphaMissense 0.11
- MetaLR 0.02
- MetaSVM -1.03
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available