T30S (p.Thr30Ser) variant of NF1 (Neurofibromin)
T30S (p.Thr30Ser) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
T30S (p.Thr30Ser) variant details
- p.Thr30Ser
- Ensembl rs1555604881
- Uncertain significance
- Missense
- MetaLR 0.09
- MetaSVM -1.09
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available