T6K (p.Thr6Lys) variant of BEST1 (Bestrophin-1)
T6K (p.Thr6Lys) 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; Retinal dystrophy; Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
T6K (p.Thr6Lys) variant details
- p.Thr6Lys
- rs281865204
- ClinGen CA380830946
- ClinVar RCV002289134
- ClinVar RCV003560932
- Pathogenic/Likely pathogenic
- not provided; Retinal dystrophy; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.94
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinal dystrophy; 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)