N82K (p.Asn82Lys) variant of STAT1 (P42224)
N82K (p.Asn82Lys) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
N82K (p.Asn82Lys) variant details
- p.Asn82Lys
- rs1694920831
- ClinGen CA349927885
- ClinVar RCV001045359
- Ensembl rs1694920831
- Uncertain significance
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.98
- MetaLR 0.22
- MetaSVM -0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Uncertain significance (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available