Q143P (p.Gln143Pro) variant of SHANK1 (Q9Y566)
Q143P (p.Gln143Pro) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
Q143P (p.Gln143Pro) variant details
- p.Gln143Pro
- rs1599875550
- ClinGen CA406996845
- ClinVar RCV003312455
- Ensembl rs1599875550
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available