L16S (p.Leu16Ser) variant of ITGA6 (Integrin alpha-6)
L16S (p.Leu16Ser) in ITGA6 (Integrin alpha-6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L16S (p.Leu16Ser) variant details
- p.Leu16Ser
- gnomAD 2-172427829-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 20.00
- Population evidence available
- Structural context available
- Literature evidence available