S7S (p.Ser7Ser) variant of ITGB4 (Integrin beta-4)
S7S (p.Ser7Ser) in ITGB4 (Integrin beta-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- rs368149213
- gnomAD 17-75724724-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 7.45
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available