F49L (p.Phe49Leu) variant of G6PC2 (Glucose-6-phosphatase 2)
F49L (p.Phe49Leu) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F49L (p.Phe49Leu) variant details
- p.Phe49Leu
- gnomAD 2-168901476-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.12
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available