N119S (p.Asn119Ser) variant of SHANK3 (Q9BYB0)
N119S (p.Asn119Ser) in SHANK3 (Q9BYB0) 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.
N119S (p.Asn119Ser) variant details
- p.Asn119Ser
- rs2518369006
- ClinGen CA515251186
- ClinVar RCV003322960
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available