A37S (p.Ala37Ser) variant of G6PC1 (P35575)
A37S (p.Ala37Ser) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A37S (p.Ala37Ser) variant details
- p.Ala37Ser
- gnomAD 17-42900985-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.52
- MetaLR 0.63
- MetaSVM 0.20
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available