L57V (p.Leu57Val) variant of CRX (Cone-rod homeobox protein)
L57V (p.Leu57Val) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L57V (p.Leu57Val) variant details
- p.Leu57Val
- gnomAD 19-47836311-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.64
- CADD 19.90
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available