Q40Q (p.Gln40Gln) variant of CRB1 (Protein crumbs homolog 1)
Q40Q (p.Gln40Gln) in CRB1 (Protein crumbs homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q40Q (p.Gln40Gln) variant details
- p.Gln40Gln
- gnomAD 1-197328471-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 8.31
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available