L31R (p.Leu31Arg) variant of BEST1 (Bestrophin-1)
L31R (p.Leu31Arg) 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.
L31R (p.Leu31Arg) variant details
- p.Leu31Arg
- rs2541332491
- ClinGen CA380831688
- ClinVar RCV003691651
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available