S30F (p.Ser30Phe) variant of G6PC2 (Glucose-6-phosphatase 2)
S30F (p.Ser30Phe) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- cosmic curated COSV10608
- ESP rs142189264
- ExAC rs142189264
- TOPMed rs142189264
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.81
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available