Q14H (p.Gln14His) variant of G6PC1 (P35575)
Q14H (p.Gln14His) in G6PC1 (P35575) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q14H (p.Gln14His) variant details
- p.Gln14His
- ExAC rs763922040
- gnomAD rs763922040
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.13
- CADD 16.00
- PolyPhen-2 0.26
- SIFT 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available