R121L (p.Arg121Leu) variant of STAT5B (P51692)
R121L (p.Arg121Leu) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Growth hormone insensitivity with immune dysregulation 1, autosom. 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.
R121L (p.Arg121Leu) variant details
- p.Arg121Leu
- rs758843144
- ClinGen CA399590680
- ClinVar RCV002018363
- ClinVar RCV006453857
- Uncertain significance
- not specified; Growth hormone insensitivity with immune dysregulation 1, autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.21
- CADD 24.70
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Growth hormone insensitivity with immune dysregul)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available