E42G (p.Glu42Gly) variant of CRX (Cone-rod homeobox protein)
E42G (p.Glu42Gly) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E42G (p.Glu42Gly) variant details
- p.Glu42Gly
- gnomAD 19-47836267-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.77
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.261
- Literature evidence available