C54C (p.Cys54Cys) variant of CRB1 (Protein crumbs homolog 1)
C54C (p.Cys54Cys) in CRB1 (Protein crumbs homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
C54C (p.Cys54Cys) variant details
- p.Cys54Cys
- rs1426861310
- gnomAD 1-197328513-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 5.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available