R121Q (p.Arg121Gln) variant of STAT5B (P51692)
R121Q (p.Arg121Gln) in STAT5B (P51692) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R121Q (p.Arg121Gln) variant details
- p.Arg121Gln
- ExAC rs758843144
- TOPMed rs758843144
- gnomAD rs758843144
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.16
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.89
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available