L20P (p.Leu20Pro) variant of BEST1 (Bestrophin-1)
L20P (p.Leu20Pro) 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.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- rs2541332164
- ClinGen CA380831399
- ClinVar RCV003566607
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available