G20V (p.Gly20Val) variant of CRX (Cone-rod homeobox protein)
G20V (p.Gly20Val) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- gnomAD 19-47834502-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.65
- CADD 24.00
- PolyPhen-2 0.79
- SIFT 0.01
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.328
- Literature evidence available