Y33H (p.Tyr33His) variant of BEST1 (Bestrophin-1)
Y33H (p.Tyr33His) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
Y33H (p.Tyr33His) variant details
- p.Tyr33His
- rs994248373
- ClinGen CA222931362
- ClinVar RCV001074571
- ClinVar RCV001242037
- Conflicting interpretations
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.99
- AlphaMissense 0.80
- MetaLR 0.98
- MetaSVM 1.07
- CADD 22.40
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinal dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available