V72A (p.Val72Ala) variant of CRX (Cone-rod homeobox protein)
V72A (p.Val72Ala) 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 and structural context.
V72A (p.Val72Ala) variant details
- p.Val72Ala
- ExAC rs776533441
- gnomAD rs776533441
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.83
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available