S138F (p.Ser138Phe) variant of STAT5B (P51692)
S138F (p.Ser138Phe) in STAT5B (P51692) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Growth hormone insensitivity with immune dysregulation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S138F (p.Ser138Phe) variant details
- p.Ser138Phe
- Ensembl rs1567662106
- Uncertain significance
- Inborn genetic diseases; Growth hormone insensitivity with immune dysregulation
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.53
- CADD 31.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Growth hormone insensitivity with immun)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available