L21F (p.Leu21Phe) variant of NF1 (Neurofibromin)
L21F (p.Leu21Phe) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- ExAC rs779453629
- gnomAD rs779453629
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.22
- AlphaMissense 0.85
- MetaLR 0.18
- MetaSVM -0.82
- CADD 31.00
- PolyPhen-2 0.97
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available