M5I (p.Met5Ile) variant of CRX (Cone-rod homeobox protein)
M5I (p.Met5Ile) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M5I (p.Met5Ile) variant details
- p.Met5Ile
- ExAC rs776868419
- TOPMed rs776868419
- gnomAD rs776868419
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.21
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.118