I38T (p.Ile38Thr) variant of BEST1 (Bestrophin-1)
I38T (p.Ile38Thr) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I38T (p.Ile38Thr) variant details
- p.Ile38Thr
- gnomAD 11-61951919-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.88
- CADD 22.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available