R48R (p.Arg48Arg) variant of CRX (Cone-rod homeobox protein)
R48R (p.Arg48Arg) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R48R (p.Arg48Arg) variant details
- p.Arg48Arg
- gnomAD 19-47836284-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 7.14
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.0997
- Literature evidence available