L67Q (p.Leu67Gln) variant of ITGB4 (Integrin beta-4)
L67Q (p.Leu67Gln) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L67Q (p.Leu67Gln) variant details
- p.Leu67Gln
- gnomAD rs1372151872
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.89
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available