Q20P (p.Gln20Pro) variant of G6PC1 (P35575)
Q20P (p.Gln20Pro) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q20P (p.Gln20Pro) variant details
- p.Gln20Pro
- gnomAD 17-42900935-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.96
- MetaLR 0.71
- MetaSVM 0.57
- CADD 26.60
- 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