Y33D (p.Tyr33Asp) variant of BEST1 (Bestrophin-1)
Y33D (p.Tyr33Asp) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
Y33D (p.Tyr33Asp) variant details
- p.Tyr33Asp
- rs994248373
- ClinGen CA380831717
- ClinVar RCV001074809
- TOPMed rs994248373
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 0.80
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available