I49N (p.Ile49Asn) variant of G6PC1 (P35575)
I49N (p.Ile49Asn) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
I49N (p.Ile49Asn) variant details
- p.Ile49Asn
- TOPMed rs968043469
- gnomAD rs968043469
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.67
- CADD 27.30
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available