T23I (p.Thr23Ile) variant of NF2 (Merlin)
T23I (p.Thr23Ile) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- gnomAD 22-29604066-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.19
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available