P6R (p.Pro6Arg) variant of ITGB4 (Integrin beta-4)
P6R (p.Pro6Arg) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- gnomAD 17-75724720-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.16
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available