S55C (p.Ser55Cys) variant of CRB1 (Protein crumbs homolog 1)
S55C (p.Ser55Cys) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S55C (p.Ser55Cys) variant details
- p.Ser55Cys
- gnomAD rs1430693263
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.35
- MetaLR 0.57
- MetaSVM -0.24
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available