N96H (p.Asn96His) variant of STAT5B (P51692)
N96H (p.Asn96His) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of STAT5B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N96H (p.Asn96His) variant details
- p.Asn96His
- TOPMed rs911203694
- gnomAD rs911203694
- Uncertain significance
- STAT5B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.14
- CADD 23.90
- PolyPhen-2 0.83
- SIFT 0.10
- ClinVar: Uncertain significance (STAT5B-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available