R13P (p.Arg13Pro) variant of SHANK1 (Q9Y566)
R13P (p.Arg13Pro) in SHANK1 (Q9Y566) is a missense change. The record also includes variant effect predictions and structural context.
R13P (p.Arg13Pro) variant details
- p.Arg13Pro
- 1000Genomes rs530590955
- ExAC rs530590955
- TOPMed rs530590955
- gnomAD rs530590955
- Missense
- MetaLR 0.05
- MetaSVM -1.04
- SIFT 0.01
- Structural context available