I5I (p.Ile5Ile) variant of NF2 (Merlin)
I5I (p.Ile5Ile) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I5I (p.Ile5Ile) variant details
- p.Ile5Ile
- gnomAD 22-29604013-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 15.30
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available