Q11H (p.Gln11His) variant of NF1 (Neurofibromin)
Q11H (p.Gln11His) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q11H (p.Gln11His) variant details
- p.Gln11His
- rs1431112645
- gnomAD rs1431112645
- ClinGen CA398979298
- ClinVar RCV003497095
- Uncertain significance
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.14
- CADD 24.10
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Uncertain significance (Neurofibromatosis, type 1)
- 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)