Q27H (p.Gln27His) variant of NF1 (Neurofibromin)
Q27H (p.Gln27His) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
Q27H (p.Gln27His) variant details
- p.Gln27His
- Ensembl rs1597625846
- Likely benign
- Missense
- MetaLR 0.01
- MetaSVM -0.96
- SIFT 0.49
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available