Y42Y (p.Tyr42Tyr) variant of G6PC2 (Glucose-6-phosphatase 2)
Y42Y (p.Tyr42Tyr) in G6PC2 (Glucose-6-phosphatase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Y42Y (p.Tyr42Tyr) variant details
- p.Tyr42Tyr
- gnomAD 2-168901457-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 7.02
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available