Y29H (p.Tyr29His) variant of BEST1 (Bestrophin-1)
Y29H (p.Tyr29His) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Y29H (p.Tyr29His) variant details
- p.Tyr29His
- rs281865217
- ClinGen CA227825
- ClinVar RCV000086175
- UniProt VAR 017369
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.99
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)