S42S (p.Ser42Ser) variant of ITGA6 (Integrin alpha-6)
S42S (p.Ser42Ser) in ITGA6 (Integrin alpha-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S42S (p.Ser42Ser) variant details
- p.Ser42Ser
- rs1194508063
- gnomAD 2-172427914-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 18.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available