T4N (p.Thr4Asn) variant of BEST1 (Bestrophin-1)
T4N (p.Thr4Asn) in BEST1 (Bestrophin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
T4N (p.Thr4Asn) variant details
- p.Thr4Asn
- ESP rs368383940
- ExAC rs368383940
- TOPMed rs368383940
- gnomAD rs368383940
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.87
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.08
- CADD 21.50
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available