S55P (p.Ser55Pro) variant of CRB1 (Protein crumbs homolog 1)
S55P (p.Ser55Pro) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S55P (p.Ser55Pro) variant details
- p.Ser55Pro
- ExAC rs777954761
- gnomAD rs777954761
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.11
- MetaLR 0.62
- MetaSVM -0.34
- CADD 8.06
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available