N95Y (p.Asn95Tyr) variant of BEST1 (Bestrophin-1)
N95Y (p.Asn95Tyr) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
N95Y (p.Asn95Tyr) variant details
- p.Asn95Tyr
- rs2134430116
- ClinGen CA380834069
- ClinVar RCV001591903
- Ensembl rs2134430116
- Likely pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 0.21
- MetaLR 0.93
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.28
- ClinVar: Likely pathogenic (Vitelliform macular dystrophy 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)