S19I (p.Ser19Ile) variant of ITGB4 (Integrin beta-4)
S19I (p.Ser19Ile) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S19I (p.Ser19Ile) variant details
- p.Ser19Ile
- gnomAD 17-75724759-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.20
- CADD 18.00
- PolyPhen-2 0.08
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available