I6M (p.Ile6Met) variant of CRB1 (Protein crumbs homolog 1)
I6M (p.Ile6Met) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I6M (p.Ile6Met) variant details
- p.Ile6Met
- gnomAD 1-197268430-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.14
- MetaLR 0.37
- MetaSVM -0.73
- CADD 0.97
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available