T30K (p.Thr30Lys) variant of NF1 (Neurofibromin)
T30K (p.Thr30Lys) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
T30K (p.Thr30Lys) variant details
- p.Thr30Lys
- Ensembl rs2143625564
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available