D23V (p.Asp23Val) variant of STAT1 (P42224)
D23V (p.Asp23Val) 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 0.47 / 1. The record also includes structural context.
D23V (p.Asp23Val) variant details
- p.Asp23Val
- rs1694998227
- ClinGen CA349928404
- ClinVar RCV001240318
- Ensembl rs1694998227
- Uncertain significance
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.91
- MetaLR 0.36
- MetaSVM -0.35
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.47
- ClinVar: Uncertain significance (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available