G421R (p.Gly421Arg) variant of STAT3 (P40763)
G421R (p.Gly421Arg) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of STAT3-related disorder; STAT3 gain of function; Hyper-IgE recurrent infection sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G421R (p.Gly421Arg) variant details
- p.Gly421Arg
- rs869312888
- ClinGen CA357947
- ClinVar RCV000210420
- ClinVar RCV000489679
- Pathogenic/Likely pathogenic
- STAT3-related disorder; STAT3 gain of function; Hyper-IgE recurrent infection sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.88
- CADD 29.90
- ClinVar: Pathogenic/Likely pathogenic (STAT3-related disorder; STAT3 gain of function; Hyper-IgE recurr)
- EBI: Pathogenic (in ADMIO1)
- UniProt: Pathogenic (in ADMIO1)
- Population evidence available
- Structural context available
- Cited in: Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. (PMID 25359994)
- Cited in: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. (PMID 36228738)