P48A (p.Pro48Ala) variant of G6PC1 (P35575)
P48A (p.Pro48Ala) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P48A (p.Pro48Ala) variant details
- p.Pro48Ala
- gnomAD 17-42901018-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.90
- MetaLR 0.89
- MetaSVM 0.97
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available