Q20H (p.Gln20His) variant of NF1 (Neurofibromin)
Q20H (p.Gln20His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q20H (p.Gln20His) variant details
- p.Gln20His
- rs1911559787
- ClinGen CA398979442
- ClinVar RCV003222909
- ClinVar RCV003495327
- Uncertain significance
- Neurofibromatosis, type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.11
- CADD 34.00
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Neurofibromatosis, type 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)