T6A (p.Thr6Ala) variant of BEST1 (Bestrophin-1)
T6A (p.Thr6Ala) 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 Retinal dystrophy; not provided; Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- rs28940275
- ClinGen CA380830940
- ClinVar RCV001064472
- ClinVar RCV001074422
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.77
- MetaLR 0.97
- MetaSVM 1.15
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)