K24R (p.Lys24Arg) variant of NF1 (Neurofibromin)
K24R (p.Lys24Arg) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
K24R (p.Lys24Arg) variant details
- p.Lys24Arg
- rs2143625259
- ClinGen CA398988078
- ClinVar RCV002370831
- Ensembl rs2143625259
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.88
- EVE 0.06
- 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)