V13A (p.Val13Ala) variant of CRX (Cone-rod homeobox protein)
V13A (p.Val13Ala) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- ExAC rs756039866
- TOPMed rs756039866
- gnomAD rs756039866
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.119