N77S (p.Asn77Ser) variant of CRB1 (Protein crumbs homolog 1)
N77S (p.Asn77Ser) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N77S (p.Asn77Ser) variant details
- p.Asn77Ser
- TOPMed rs1330886467
- gnomAD rs1330886467
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.22
- MetaLR 0.53
- MetaSVM -0.42
- CADD 0.25
- PolyPhen-2 0.01
- SIFT 0.66
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available