M33L (p.Met33Leu) variant of NF2 (Merlin)
M33L (p.Met33Leu) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M33L (p.Met33Leu) variant details
- p.Met33Leu
- gnomAD 22-29604095-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available