D135E (p.Asp135Glu) variant of STAT5B (P51692)
D135E (p.Asp135Glu) in STAT5B (P51692) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D135E (p.Asp135Glu) variant details
- p.Asp135Glu
- TOPMed rs1194643096
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.31
- CADD 0.70
- PolyPhen-2 0.25
- SIFT 0.10
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available