S12F (p.Ser12Phe) variant of CRX (Cone-rod homeobox protein)
S12F (p.Ser12Phe) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- ExAC rs767285003
- gnomAD rs767285003
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.393