E35D (p.Glu35Asp) variant of BEST1 (Bestrophin-1)
E35D (p.Glu35Asp) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive bestrophinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
E35D (p.Glu35Asp) variant details
- p.Glu35Asp
- rs2134409890
- ClinGen CA380831794
- ClinVar RCV002264905
- Ensembl rs2134409890
- Uncertain significance
- Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- AlphaMissense 0.71
- MetaLR 0.95
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.28
- EVE 0.22
- ClinVar: Uncertain significance (Autosomal recessive bestrophinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)