N6T (p.Asn6Thr) variant of G6PC1 (P35575)
N6T (p.Asn6Thr) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N6T (p.Asn6Thr) variant details
- p.Asn6Thr
- gnomAD 17-42900893-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.37
- MetaLR 0.36
- MetaSVM -0.24
- CADD 23.40
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available