F17C (p.Phe17Cys) variant of BEST1 (Bestrophin-1)
F17C (p.Phe17Cys) in BEST1 (Bestrophin-1) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
F17C (p.Phe17Cys) variant details
- p.Phe17Cys
- rs281865211
- ClinGen CA227784
- ClinVar RCV000086139
- UniProt VAR 010471
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (PMID 10798642)
- Cited in: Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. (PMID 11241846)