I46T (p.Ile46Thr) variant of BEST1 (Bestrophin-1)
I46T (p.Ile46Thr) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
I46T (p.Ile46Thr) variant details
- p.Ile46Thr
- rs989919477
- ClinGen CA222931409
- ClinVar RCV002041831
- TOPMed rs989919477
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.84
- CADD 17.80
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available