G24R (p.Gly24Arg) variant of ITGB4 (Integrin beta-4)
G24R (p.Gly24Arg) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- gnomAD 17-75724773-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.48
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available