A42T (p.Ala42Thr) variant of G6PC1 (P35575)
A42T (p.Ala42Thr) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- gnomAD rs1311303870
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.20
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available