A2A (p.Ala2Ala) variant of NF2 (Merlin)
A2A (p.Ala2Ala) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs2064712585
- gnomAD 22-29604004-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 12.10
- Population evidence available
- Structural context available
- Literature evidence available