S18F (p.Ser18Phe) variant of ITGA6 (Integrin alpha-6)
S18F (p.Ser18Phe) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- TOPMed rs1683916406
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 16.40
- PolyPhen-2 0.03
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available