N190K (p.Asn190Lys) variant of BEST1 (Bestrophin-1)
N190K (p.Asn190Lys) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of not provided; Retinal dystrophy. The record also includes structural context.
N190K (p.Asn190Lys) variant details
- p.Asn190Lys
- gnomAD rs1214738488
- Pathogenic
- not provided; Retinal dystrophy
- Missense
- ClinVar: Pathogenic (Vitelliform macular dystrophy 2)
- UniProt: Pathogenic
- Structural context available