R100H (p.Arg100His) variant of STAT5B (P51692)
R100H (p.Arg100His) in STAT5B (P51692) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R100H (p.Arg100His) variant details
- p.Arg100His
- TOPMed rs1475711023
- gnomAD rs1475711023
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.05
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available