F17L (p.Phe17Leu) variant of NF1 (Neurofibromin)
F17L (p.Phe17Leu) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- rs1369290988
- ClinGen CA398979393
- ClinVar RCV000806661
- gnomAD rs1369290988
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.19
- MetaLR 0.10
- MetaSVM -1.04
- CADD 29.10
- PolyPhen-2 0.97
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)