G71A (p.Gly71Ala) variant of ITGB4 (Integrin beta-4)
G71A (p.Gly71Ala) in ITGB4 (Integrin beta-4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G71A (p.Gly71Ala) variant details
- p.Gly71Ala
- gnomAD 17-75727450-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 0.53
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available