Q11L (p.Gln11Leu) variant of NF1 (Neurofibromin)
Q11L (p.Gln11Leu) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q11L (p.Gln11Leu) variant details
- p.Gln11Leu
- Ensembl rs2143145095
- Uncertain significance
- Cardiovascular phenotype; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.14
- CADD 22.90
- PolyPhen-2 0.22
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hereditary cancer-predisposing syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available