N31S (p.Asn31Ser) variant of CRB1 (Protein crumbs homolog 1)
N31S (p.Asn31Ser) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N31S (p.Asn31Ser) variant details
- p.Asn31Ser
- gnomAD 1-197328443-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.22
- MetaLR 0.42
- MetaSVM -0.59
- CADD 8.59
- PolyPhen-2 0.03
- SIFT 0.41
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available