S38L (p.Ser38Leu) variant of CRB1 (Protein crumbs homolog 1)
S38L (p.Ser38Leu) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S38L (p.Ser38Leu) variant details
- p.Ser38Leu
- rs62645750
- gnomAD 1-197328461-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available