G71D (p.Gly71Asp) variant of ITGB4 (Integrin beta-4)
G71D (p.Gly71Asp) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G71D (p.Gly71Asp) variant details
- p.Gly71Asp
- gnomAD 17-75727453-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.71
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available