E40E (p.Glu40Glu) variant of ITGB4 (Integrin beta-4)
E40E (p.Glu40Glu) in ITGB4 (Integrin beta-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- gnomAD 17-75727235-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 12.10
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available