R1000S (p.Arg1000Ser) variant of NF1 (Neurofibromin)
R1000S (p.Arg1000Ser) 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 record also includes variant effect predictions and structural context.
R1000S (p.Arg1000Ser) variant details
- p.Arg1000Ser
- cosmic curated COSV62202
- ESP rs367684252
- ExAC rs367684252
- gnomAD rs367684252
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- MetaLR 0.09
- MetaSVM -1.08
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available