S42A (p.Ser42Ala) variant of ITGA6 (Integrin alpha-6)
S42A (p.Ser42Ala) in ITGA6 (Integrin alpha-6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S42A (p.Ser42Ala) variant details
- p.Ser42Ala
- rs1198032643
- gnomAD 2-172427904-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 16.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available