H4N (p.His4Asn) variant of NF1 (Neurofibromin)
H4N (p.His4Asn) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H4N (p.His4Asn) variant details
- p.His4Asn
- rs1911551060
- ClinGen CA398979184
- ClinVar RCV001056212
- TOPMed rs1911551060
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -1.03
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- 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)