M33I (p.Met33Ile) variant of NF2 (Merlin)
M33I (p.Met33Ile) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M33I (p.Met33Ile) variant details
- p.Met33Ile
- gnomAD 22-29604097-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.32
- CADD 26.40
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available