M5T (p.Met5Thr) variant of CRX (Cone-rod homeobox protein)
M5T (p.Met5Thr) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M5T (p.Met5Thr) variant details
- p.Met5Thr
- gnomAD rs1458143033
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.49
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.118