G20S (p.Gly20Ser) variant of CRX (Cone-rod homeobox protein)
G20S (p.Gly20Ser) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- rs1254989456
- gnomAD 19-47839340-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 9.66
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.328
- Literature evidence available