L73I (p.Leu73Ile) variant of G6PC1 (P35575)
L73I (p.Leu73Ile) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L73I (p.Leu73Ile) variant details
- p.Leu73Ile
- gnomAD 17-42901093-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.65
- MetaLR 0.54
- MetaSVM 0.07
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available