S357P (p.Ser357Pro) variant of MITF (O75030)
S357P (p.Ser357Pro) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Waardenburg syndrome type 2A. The record also includes published literature and structural context.
S357P (p.Ser357Pro) variant details
- p.Ser357Pro
- rs104893744
- ClinGen CA123830
- ClinVar RCV000015343
- UniProt VAR 010300
- Pathogenic
- Waardenburg syndrome type 2A
- Missense
- ClinVar: Pathogenic (Waardenburg syndrome type 2A)
- EBI: Pathogenic (in WS2A)
- UniProt: Pathogenic (in WS2A)
- Structural context available
- Cited in: The mutational spectrum in Waardenburg syndrome. (PMID 8589691)
- Cited in: EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. (PMID 28236341)