M1V (p.Met1Val) variant of BEST1 (Bestrophin-1)
M1V (p.Met1Val) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2541331724
- ClinGen CA380830742
- ClinVar RCV003019263
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available