N6S (p.Asn6Ser) variant of G6PC1 (P35575)
N6S (p.Asn6Ser) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N6S (p.Asn6Ser) variant details
- p.Asn6Ser
- ExAC rs776795347
- gnomAD rs776795347
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available