N11I (p.Asn11Ile) variant of BEST1 (Bestrophin-1)
N11I (p.Asn11Ile) 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 0.86 / 1. The record also includes published literature and structural context.
N11I (p.Asn11Ile) variant details
- p.Asn11Ile
- rs281865208
- ClinGen CA227769
- ClinVar RCV000086127
- UniProt VAR 017367
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.80
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). (PMID 14517959)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)