D157Y (p.Asp157Tyr) variant of STAT5B (P51692)
D157Y (p.Asp157Tyr) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D157Y (p.Asp157Tyr) variant details
- p.Asp157Tyr
- rs1334236273
- ClinGen CA399589232
- ClinVar RCV004465526
- gnomAD rs1334236273
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.34
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)