N30I (p.Asn30Ile) variant of CRB1 (Protein crumbs homolog 1)
N30I (p.Asn30Ile) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
N30I (p.Asn30Ile) variant details
- p.Asn30Ile
- ExAC rs774842265
- TOPMed rs774842265
- gnomAD rs774842265
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.69
- MetaLR 0.87
- MetaSVM 0.92
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available