A12G (p.Ala12Gly) variant of BEST1 (Bestrophin-1)
A12G (p.Ala12Gly) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitelliform macular dystrophy 2; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- rs1940692591
- ClinGen CA380831179
- ClinVar RCV001073514
- ClinVar RCV002283522
- Uncertain significance
- Vitelliform macular dystrophy 2; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 0.49
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.27
- ClinVar: Uncertain significance (Vitelliform macular dystrophy 2; Retinal dystrophy)
- 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)