C72G (p.Cys72Gly) variant of ITGB4 (Integrin beta-4)
C72G (p.Cys72Gly) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C72G (p.Cys72Gly) variant details
- p.Cys72Gly
- gnomAD 17-75727455-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.84
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available