S15N (p.Ser15Asn) variant of NF1 (Neurofibromin)
S15N (p.Ser15Asn) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S15N (p.Ser15Asn) variant details
- p.Ser15Asn
- rs1598173852
- ClinGen CA398979344
- ClinVar RCV000815984
- ClinVar RCV002319116
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.95
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- 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)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)