S47T (p.Ser47Thr) variant of CHD2 (O14647)
S47T (p.Ser47Thr) in CHD2 (O14647) 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.
S47T (p.Ser47Thr) variant details
- p.Ser47Thr
- ExAC rs781140829
- TOPMed rs781140829
- Uncertain significance
- Missense
- MetaLR 0.46
- MetaSVM -0.51
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available