M1V (p.Met1Val) variant of AIRE (Autoimmune regulator)
M1V (p.Met1Val) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inherited Immunodeficiency Diseases; Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs121434258
- ClinGen CA10051456
- ClinVar RCV000666118
- ClinVar RCV001027543
- Pathogenic
- Inherited Immunodeficiency Diseases; Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- MetaLR 0.44
- MetaSVM -0.46
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.86
- ClinVar: Pathogenic (Inherited Immunodeficiency Diseases; Polyglandular autoimmune sy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available