I11L (p.Ile11Leu) variant of CRB1 (Protein crumbs homolog 1)
I11L (p.Ile11Leu) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I11L (p.Ile11Leu) variant details
- p.Ile11Leu
- gnomAD 1-197268443-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.14
- MetaLR 0.28
- MetaSVM -0.91
- CADD 5.79
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available