E70V (p.Glu70Val) variant of CRX (Cone-rod homeobox protein)
E70V (p.Glu70Val) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E70V (p.Glu70Val) variant details
- p.Glu70Val
- ExAC rs746588900
- gnomAD rs746588900
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.80
- CADD 23.50
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available