F58C (p.Phe58Cys) variant of CRX (Cone-rod homeobox protein)
F58C (p.Phe58Cys) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
F58C (p.Phe58Cys) variant details
- p.Phe58Cys
- ExAC rs756371710
- gnomAD rs756371710
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.95
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available