R9P (p.Arg9Pro) variant of AIRE (Autoimmune regulator)
R9P (p.Arg9Pro) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
R9P (p.Arg9Pro) variant details
- p.Arg9Pro
- rs1057517878
- ClinGen CA16043166
- ClinVar RCV000414619
- Ensembl rs1057517878
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.10
- MetaLR 0.49
- MetaSVM -0.61
- PolyPhen-2 0.00
- SIFT 0.40
- EVE 0.08
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available