G71C (p.Gly71Cys) variant of ITGB4 (Integrin beta-4)
G71C (p.Gly71Cys) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G71C (p.Gly71Cys) variant details
- p.Gly71Cys
- gnomAD rs1226422448
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.76
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available