R40R (p.Arg40Arg) variant of CRX (Cone-rod homeobox protein)
R40R (p.Arg40Arg) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40R (p.Arg40Arg) variant details
- p.Arg40Arg
- rs749738655
- gnomAD 19-47836260-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 11.50
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.277
- Literature evidence available