S18S (p.Ser18Ser) variant of ITGA6 (Integrin alpha-6)
S18S (p.Ser18Ser) in ITGA6 (Integrin alpha-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- rs1419807933
- gnomAD 2-172427842-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 12.60
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available