V3A (p.Val3Ala) variant of STAT5B (P51692)
V3A (p.Val3Ala) in STAT5B (P51692) is a missense change. 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.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- TOPMed rs930684230
- gnomAD rs930684230
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.09
- CADD 20.60
- PolyPhen-2 0.04
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available