S246N (p.Ser246Asn) variant of BEST1 (Bestrophin-1)
S246N (p.Ser246Asn) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
S246N (p.Ser246Asn) variant details
- p.Ser246Asn
- rs2134444981
- ClinGen CA380839484
- ClinVar RCV002249296
- Ensembl rs2134444981
- Pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Vitelliform macular dystrophy 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)