A61T (p.Ala61Thr) variant of G6PC2 (Glucose-6-phosphatase 2)
A61T (p.Ala61Thr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A61T (p.Ala61Thr) variant details
- p.Ala61Thr
- gnomAD 2-168901512-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.64
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available