P34L (p.Pro34Leu) variant of ITGB4 (Integrin beta-4)
P34L (p.Pro34Leu) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- ExAC rs774591158
- gnomAD rs774591158
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.14
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available