L57P (p.Leu57Pro) variant of CRX (Cone-rod homeobox protein)
L57P (p.Leu57Pro) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- gnomAD 19-47836312-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.88
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available