D30D (p.Asp30Asp) variant of NF2 (Merlin)
D30D (p.Asp30Asp) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D30D (p.Asp30Asp) variant details
- p.Asp30Asp
- gnomAD 22-29604088-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available