C54S (p.Cys54Ser) variant of CRB1 (Protein crumbs homolog 1)
C54S (p.Cys54Ser) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
C54S (p.Cys54Ser) variant details
- p.Cys54Ser
- gnomAD 1-197328512-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.68
- MetaLR 0.98
- MetaSVM 1.03
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available