C38F (p.Cys38Phe) variant of ITGB4 (Integrin beta-4)
C38F (p.Cys38Phe) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
C38F (p.Cys38Phe) variant details
- p.Cys38Phe
- ExAC rs752230205
- TOPMed rs752230205
- gnomAD rs752230205
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.98
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available