E30E (p.Glu30Glu) variant of ITGA6 (Integrin alpha-6)
E30E (p.Glu30Glu) in ITGA6 (Integrin alpha-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E30E (p.Glu30Glu) variant details
- p.Glu30Glu
- rs1006950275
- gnomAD 2-172427878-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 19.40
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available