R197H (p.Arg197His) variant of STAT5B (P51692)
R197H (p.Arg197His) in STAT5B (P51692) is a missense change. Clinical records from ClinVar 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 0.48 / 1. The record also includes population frequency data and structural context.
R197H (p.Arg197His) variant details
- p.Arg197His
- gnomAD rs1326533398
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.26
- CADD 27.30
- PolyPhen-2 0.75
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available