M5V (p.Met5Val) variant of CRX (Cone-rod homeobox protein)
M5V (p.Met5Val) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M5V (p.Met5Val) variant details
- p.Met5Val
- ESP rs145337312
- ExAC rs145337312
- TOPMed rs145337312
- gnomAD rs145337312
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.30
- CADD 22.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.118