G50A (p.Gly50Ala) variant of SLC37A4 (O43826)
G50A (p.Gly50Ala) in SLC37A4 (O43826) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in GSD1B. 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.
G50A (p.Gly50Ala) variant details
- p.Gly50Ala
- 1000Genomes rs193302877
- ExAC rs193302877
- gnomAD rs193302877
- Uncertain significance
- in GSD1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance (in GSD1B)
- UniProt: Uncertain significance (in GSD1B)
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available