R5S (p.Arg5Ser) variant of ITGB4 (Integrin beta-4)
R5S (p.Arg5Ser) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- ESP rs141077392
- ExAC rs141077392
- TOPMed rs141077392
- gnomAD rs141077392
- Missense
- Variant Prioritization Score for Impact Estimate 0.0557
- REVEL 0.05
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available