L17L (p.Leu17Leu) variant of ITGB4 (Integrin beta-4)
L17L (p.Leu17Leu) in ITGB4 (Integrin beta-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- rs763352982
- gnomAD 17-75724752-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 6.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available