S23F (p.Ser23Phe) variant of ITGB4 (Integrin beta-4)
S23F (p.Ser23Phe) 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 and structural context.
S23F (p.Ser23Phe) variant details
- p.Ser23Phe
- TOPMed rs1453010120
- gnomAD rs1453010120
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.13
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 0.31
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available