F35L (p.Phe35Leu) variant of NF2 (Merlin)
F35L (p.Phe35Leu) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
F35L (p.Phe35Leu) variant details
- p.Phe35Leu
- Ensembl rs976153071
- Uncertain significance
- Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.58
- CADD 24.50
- PolyPhen-2 0.66
- SIFT 0.06
- ClinVar: Uncertain significance (Neurofibromatosis, type 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available