I11F (p.Ile11Phe) variant of CRB1 (Protein crumbs homolog 1)
I11F (p.Ile11Phe) 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 and structural context.
I11F (p.Ile11Phe) variant details
- p.Ile11Phe
- ExAC rs770876906
- gnomAD rs770876906
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.15
- MetaLR 0.30
- MetaSVM -0.97
- CADD 6.78
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available