N30Y (p.Asn30Tyr) variant of CRB1 (Protein crumbs homolog 1)
N30Y (p.Asn30Tyr) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
N30Y (p.Asn30Tyr) variant details
- p.Asn30Tyr
- gnomAD 1-197328439-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.66
- MetaLR 0.85
- MetaSVM 0.87
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available