Q55E (p.Gln55Glu) variant of ITGA6 (Integrin alpha-6)
Q55E (p.Gln55Glu) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q55E (p.Gln55Glu) variant details
- p.Gln55Glu
- gnomAD 2-172427951-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available