S16P (p.Ser16Pro) variant of BEST1 (Bestrophin-1)
S16P (p.Ser16Pro) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
S16P (p.Ser16Pro) variant details
- p.Ser16Pro
- rs2541332053
- ClinGen CA380831301
- ClinVar RCV003547669
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Structural context available