V106I (p.Val106Ile) variant of STAT5B (P51692)
V106I (p.Val106Ile) in STAT5B (P51692) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V106I (p.Val106Ile) variant details
- p.Val106Ile
- rs748978416
- ExAC rs748978416
- gnomAD rs748978416
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.18
- CADD 23.50
- PolyPhen-2 0.61
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available