E35K (p.Glu35Lys) variant of BEST1 (Bestrophin-1)
E35K (p.Glu35Lys) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of BEST1-related disorder; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs886041142
- ClinGen CA10603253
- ClinVar RCV000356527
- ClinVar RCV003152701
- Pathogenic/Likely pathogenic
- BEST1-related disorder; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.98
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (BEST1-related disorder; Retinal dystrophy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)