D65N (p.Asp65Asn) variant of STAT1 (P42224)
D65N (p.Asp65Asn) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
D65N (p.Asp65Asn) variant details
- p.Asp65Asn
- rs1574672739
- ClinGen CA349928018
- ClinVar RCV000821803
- Ensembl rs1574672739
- Uncertain significance
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.89
- MetaLR 0.26
- MetaSVM -0.75
- PolyPhen-2 0.89
- SIFT 0.16
- EVE 0.44
- ClinVar: Uncertain significance (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available