L14S (p.Leu14Ser) variant of BEST1 (Bestrophin-1)
L14S (p.Leu14Ser) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
L14S (p.Leu14Ser) variant details
- p.Leu14Ser
- rs2541332010
- ClinGen CA380831214
- ClinVar RCV002842822
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available