R8C (p.Arg8Cys) variant of AIRE (Autoimmune regulator)
R8C (p.Arg8Cys) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Polyglandular autoimmune syndrome, type 1; Retinal disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- rs1231469574
- ClinGen CA410422952
- ClinVar RCV000668219
- ClinVar RCV000710495
- Conflicting interpretations
- not provided; Polyglandular autoimmune syndrome, type 1; Retinal disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.75
- MetaLR 0.87
- MetaSVM 0.90
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Polyglandular autoimmune syndrome, type 1; Retinal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available