T11A (p.Thr11Ala) variant of SLC37A4 (O43826)
T11A (p.Thr11Ala) in SLC37A4 (O43826) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- gnomAD rs1399227780
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0801
- CADD 1.53
- PolyPhen-2 0.00
- SIFT 0.67
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available