R41G (p.Arg41Gly) variant of CRX (Cone-rod homeobox protein)
R41G (p.Arg41Gly) in CRX (Cone-rod homeobox protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R41G (p.Arg41Gly) variant details
- p.Arg41Gly
- gnomAD 19-47836260-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 32.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.156
- Literature evidence available