A76T (p.Ala76Thr) variant of SLC37A4 (O43826)
A76T (p.Ala76Thr) 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 0.79 / 1. The record also includes population frequency data and structural context.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- TOPMed rs948802122
- gnomAD rs948802122
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available