E32D (p.Glu32Asp) variant of NF2 (Merlin)
E32D (p.Glu32Asp) in NF2 (Merlin) is a missense 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.
E32D (p.Glu32Asp) variant details
- p.Glu32Asp
- gnomAD 22-29604094-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.30
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available