N7I (p.Asn7Ile) variant of CRB1 (Protein crumbs homolog 1)
N7I (p.Asn7Ile) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N7I (p.Asn7Ile) variant details
- p.Asn7Ile
- TOPMed rs1267483242
- gnomAD rs1267483242
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.20
- MetaLR 0.41
- MetaSVM -0.65
- CADD 2.76
- PolyPhen-2 0.07
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available