L37P (p.Leu37Pro) variant of BEST1 (Bestrophin-1)
L37P (p.Leu37Pro) 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.
L37P (p.Leu37Pro) variant details
- p.Leu37Pro
- rs2134409956
- ClinGen CA2573147306
- ClinVar RCV001911840
- Ensembl rs2134409956
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available