R1412K (p.Arg1412Lys) variant of NF1 (Neurofibromin)
R1412K (p.Arg1412Lys) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R1412K (p.Arg1412Lys) variant details
- p.Arg1412Lys
- rs1555618516
- ClinGen CA398997838
- cosmic curated COSV62198
- ClinVar RCV003873676
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- EBI: Pathogenic (in NF1)
- UniProt: Pathogenic (in NF1)
- 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)