Q6L (p.Gln6Leu) variant of ITGA6 (Integrin alpha-6)
Q6L (p.Gln6Leu) 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.
Q6L (p.Gln6Leu) variant details
- p.Gln6Leu
- gnomAD 2-172427805-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available