A10T (p.Ala10Thr) variant of BEST1 (Bestrophin-1)
A10T (p.Ala10Thr) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs281865206
- ClinGen CA227759
- ClinVar RCV000086118
- ClinVar RCV001073998
- Pathogenic
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.90
- CADD 21.10
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic (Retinal dystrophy; not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult… (PMID 10854112)
- Cited in: Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular… (PMID 9700209)