L12R (p.Leu12Arg) variant of ITGA6 (Integrin alpha-6)
L12R (p.Leu12Arg) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- Ensembl rs1574301733
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 27.90
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available