N29K (p.Asn29Lys) variant of NF1 (Neurofibromin)
N29K (p.Asn29Lys) 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 0.26 / 1. The record also includes published literature and structural context.
N29K (p.Asn29Lys) variant details
- p.Asn29Lys
- rs1060503914
- ClinGen CA398988167
- ClinVar RCV003047879
- TOPMed rs1060503914
- Uncertain significance
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- AlphaMissense 0.42
- MetaLR 0.02
- MetaSVM -1.03
- PolyPhen-2 0.07
- SIFT 0.21
- EVE 0.10
- ClinVar: Uncertain significance (Neurofibromatosis, type 1)
- EBI: Likely benign
- UniProt: Likely benign
- 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)