P73S (p.Pro73Ser) variant of CRB1 (Protein crumbs homolog 1)
P73S (p.Pro73Ser) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P73S (p.Pro73Ser) variant details
- p.Pro73Ser
- gnomAD 1-197328568-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.27
- MetaLR 0.87
- MetaSVM 0.71
- CADD 10.30
- PolyPhen-2 0.12
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available