L94F (p.Leu94Phe) variant of STAT5B (P51692)
L94F (p.Leu94Phe) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Growth hormone insensitivity with immune dysregulation 1, autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L94F (p.Leu94Phe) variant details
- p.Leu94Phe
- rs199645527
- ClinGen CA8574341
- ClinVar RCV000733294
- ClinVar RCV001401938
- Conflicting interpretations
- not provided; Growth hormone insensitivity with immune dysregulation 1, autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.13
- CADD 18.90
- PolyPhen-2 0.06
- SIFT 0.70
- ClinVar: Conflicting classifications of pathogenicity (not provided; Growth hormone insensitivity with immune dysregula)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available