H437L (p.His437Leu) variant of STAT3 (P40763)
H437L (p.His437Leu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of STAT3-related early-onset multisystem autoimmune disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
H437L (p.His437Leu) variant details
- p.His437Leu
- rs2081712040
- ClinGen CA399587814
- ClinVar RCV001253455
- Ensembl rs2081712040
- Likely pathogenic
- STAT3-related early-onset multisystem autoimmune disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.02
- PolyPhen-2 0.05
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (STAT3-related early-onset multisystem autoimmune disease)
- EBI: Likely pathogenic (in HIES1)
- UniProt: Likely pathogenic (in HIES1)
- Structural context available