S32W (p.Ser32Trp) variant of RET (P07949)
S32W (p.Ser32Trp) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RET-related disorder. The record also includes structural context.
S32W (p.Ser32Trp) variant details
- p.Ser32Trp
- Ensembl rs76764689
- Uncertain significance
- RET-related disorder
- Missense
- ClinVar: Uncertain significance (RET-related disorder)
- EBI: Likely pathogenic (in HSCR1)
- UniProt: Likely pathogenic (in HSCR1)
- Structural context available