E30K (p.Glu30Lys) variant of ITGA6 (Integrin alpha-6)
E30K (p.Glu30Lys) 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.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- gnomAD 2-172427876-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available