E57K (p.Glu57Lys) variant of ITGA6 (Integrin alpha-6)
E57K (p.Glu57Lys) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- TOPMed rs1250054509
- gnomAD rs1250054509
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available