T6I (p.Thr6Ile) variant of BEST1 (Bestrophin-1)
T6I (p.Thr6Ile) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T6I (p.Thr6Ile) variant details
- p.Thr6Ile
- gnomAD 11-61951823-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.81
- CADD 22.20
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available