H31R (p.His31Arg) variant of NF1 (Neurofibromin)
H31R (p.His31Arg) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NF1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H31R (p.His31Arg) variant details
- p.His31Arg
- rs199474725
- ClinGen CA219643
- ClinVar RCV000059218
- ClinVar RCV001854237
- Pathogenic
- in NF1
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.46
- AlphaMissense 0.24
- MetaLR 0.08
- MetaSVM -1.12
- CADD 21.40
- PolyPhen-2 0.96
- EBI: Pathogenic (in NF1)
- UniProt: Pathogenic (in NF1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in… (PMID 15060124)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)