I144N (p.Ile144Asn) variant of STAT5B (P51692)
I144N (p.Ile144Asn) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Growth hormone insensitivity with immune dysregulation 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
I144N (p.Ile144Asn) variant details
- p.Ile144Asn
- rs2080247724
- ClinGen CA399589426
- ClinVar RCV002850954
- gnomAD rs2080247724
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.71
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Growth hormone insensitivity with immune dysregulation 1, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available