P4L (p.Pro4Leu) variant of ITGB4 (Integrin beta-4)
P4L (p.Pro4Leu) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- 1000Genomes rs147285287
- ESP rs147285287
- gnomAD rs147285287
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.13
- CADD 9.47
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available