S2018I (p.Ser2018Ile) variant of NF1 (Neurofibromin)
S2018I (p.Ser2018Ile) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S2018I (p.Ser2018Ile) variant details
- p.Ser2018Ile
- rs2069669492
- ClinGen CA399011119
- ClinVar RCV003494738
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.93
- MetaLR 0.89
- MetaSVM 0.95
- CADD 28.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)