D64N (p.Asp64Asn) variant of CRB1 (Protein crumbs homolog 1)
D64N (p.Asp64Asn) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D64N (p.Asp64Asn) variant details
- p.Asp64Asn
- gnomAD 1-197328541-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.35
- MetaLR 0.69
- MetaSVM 0.39
- CADD 22.20
- PolyPhen-2 0.49
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available