S43F (p.Ser43Phe) variant of CRB1 (Protein crumbs homolog 1)
S43F (p.Ser43Phe) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S43F (p.Ser43Phe) variant details
- p.Ser43Phe
- gnomAD 1-197328479-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.60
- MetaLR 0.87
- MetaSVM 0.90
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available