M9R (p.Met9Arg) variant of NF2 (Merlin)
M9R (p.Met9Arg) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
M9R (p.Met9Arg) variant details
- p.Met9Arg
- gnomAD 22-29604024-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.74
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available