Q50H (p.Gln50His) variant of CRX (Cone-rod homeobox protein)
Q50H (p.Gln50His) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q50H (p.Gln50His) variant details
- p.Gln50His
- ExAC rs755068966
- TOPMed rs755068966
- gnomAD rs755068966
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.81
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.514