A49A (p.Ala49Ala) variant of ITGB4 (Integrin beta-4)
A49A (p.Ala49Ala) in ITGB4 (Integrin beta-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A49A (p.Ala49Ala) variant details
- p.Ala49Ala
- gnomAD 17-75727262-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 13.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available