K17K (p.Lys17Lys) variant of G6PC2 (Glucose-6-phosphatase 2)
K17K (p.Lys17Lys) in G6PC2 (Glucose-6-phosphatase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K17K (p.Lys17Lys) variant details
- p.Lys17Lys
- rs745981571
- gnomAD 2-168901382-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 6.16
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available