G131V (p.Gly131Val) variant of STAT5B (P51692)
G131V (p.Gly131Val) 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 0.43 / 1. The record also includes structural context.
G131V (p.Gly131Val) variant details
- p.Gly131Val
- rs2144267555
- ClinGen CA399589626
- ClinVar RCV002005288
- Ensembl rs2144267555
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.07
- MetaLR 0.51
- MetaSVM -0.29
- PolyPhen-2 0.01
- SIFT 0.30
- EVE 0.22
- ClinVar: Uncertain significance (Growth hormone insensitivity with immune dysregulation 1, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available