T2T (p.Thr2Thr) variant of BEST1 (Bestrophin-1)
T2T (p.Thr2Thr) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T2T (p.Thr2Thr) variant details
- p.Thr2Thr
- rs2134409027
- gnomAD 11-61951812-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 12.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available