N7T (p.Asn7Thr) variant of CRB1 (Protein crumbs homolog 1)
N7T (p.Asn7Thr) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N7T (p.Asn7Thr) variant details
- p.Asn7Thr
- rs2125193925
- gnomAD 1-197268429-TTAAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 22.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available