N30S (p.Asn30Ser) variant of CRB1 (Protein crumbs homolog 1)
N30S (p.Asn30Ser) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N30S (p.Asn30Ser) variant details
- p.Asn30Ser
- cosmic curated COSV66337
- ExAC rs774842265
- TOPMed rs774842265
- gnomAD rs774842265
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.44
- MetaLR 0.83
- MetaSVM 0.81
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available