E53Q (p.Glu53Gln) variant of STAT5B (P51692)
E53Q (p.Glu53Gln) in STAT5B (P51692) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- ExAC rs762274331
- gnomAD rs762274331
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.33
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available