D228E (p.Asp228Glu) variant of BEST1 (Bestrophin-1)
D228E (p.Asp228Glu) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 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.
D228E (p.Asp228Glu) variant details
- p.Asp228Glu
- rs1431752515
- ClinGen CA380838765
- ClinVar RCV002283941
- ClinGen CA380838768
- Likely pathogenic
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.95
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant vitreoretinochoroidopathy)
- EBI: Likely pathogenic (in RP50)
- UniProt: Likely pathogenic (in RP50)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)