E213G (p.Glu213Gly) variant of BEST1 (Bestrophin-1)
E213G (p.Glu213Gly) 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 not provided; Autosomal recessive bestrophinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E213G (p.Glu213Gly) variant details
- p.Glu213Gly
- rs748685592
- ClinGen CA6040812
- ClinVar RCV001301740
- ClinVar RCV001352993
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.99
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive bestrophinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)