K24N (p.Lys24Asn) variant of NF1 (Neurofibromin)
K24N (p.Lys24Asn) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
K24N (p.Lys24Asn) variant details
- p.Lys24Asn
- rs2143625276
- ClinVar RCV004560808
- Ensembl rs2143625276
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- AlphaMissense 0.91
- MetaLR 0.03
- MetaSVM -1.09
- PolyPhen-2 0.59
- SIFT 0.21
- EVE 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Cardiovascular phenotyp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)