Q62L (p.Gln62Leu) variant of CRX (Cone-rod homeobox protein)
Q62L (p.Gln62Leu) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q62L (p.Gln62Leu) variant details
- p.Gln62Leu
- gnomAD 19-47836327-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.59
- CADD 23.60
- PolyPhen-2 0.27
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available