L63S (p.Leu63Ser) variant of CRB1 (Protein crumbs homolog 1)
L63S (p.Leu63Ser) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L63S (p.Leu63Ser) variant details
- p.Leu63Ser
- TOPMed rs980680937
- gnomAD rs980680937
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.20
- MetaLR 0.43
- MetaSVM -0.37
- CADD 15.20
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available