N99H (p.Asn99His) variant of BEST1 (Bestrophin-1)
N99H (p.Asn99His) 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 0.67 / 1. The record also includes published literature and structural context.
N99H (p.Asn99His) variant details
- p.Asn99His
- rs1591283811
- ClinGen CA380834133
- ClinVar RCV000787539
- Ensembl rs1591283811
- Likely pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- AlphaMissense 0.10
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.30
- ClinVar: Likely pathogenic (Vitelliform macular dystrophy 2)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)