Q55del (p.Gln55del) variant of ITGA6 (Integrin alpha-6)
Q55del (p.Gln55del) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q55del (p.Gln55del) variant details
- gnomAD 2-172427949-TGCA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 22.50
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available