I52T (p.Ile52Thr) variant of SLC37A4 (O43826)
I52T (p.Ile52Thr) in SLC37A4 (O43826) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- ExAC rs782676994
- gnomAD rs782676994
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available