I18V (p.Ile18Val) variant of ITGB4 (Integrin beta-4)
I18V (p.Ile18Val) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- gnomAD 17-75724755-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.10
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available