M2T (p.Met2Thr) variant of CRX (Cone-rod homeobox protein)
M2T (p.Met2Thr) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M2T (p.Met2Thr) variant details
- p.Met2Thr
- gnomAD 19-47834448-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.84
- CADD 24.80
- PolyPhen-2 0.78
- SIFT 0.00
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.366
- Literature evidence available