D45D (p.Asp45Asp) variant of NF2 (Merlin)
D45D (p.Asp45Asp) in NF2 (Merlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D45D (p.Asp45Asp) variant details
- p.Asp45Asp
- rs752664255
- gnomAD 22-29636771-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 11.40
- Most common in the Non-Finnish European population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available