I41T (p.Ile41Thr) variant of G6PC2 (Glucose-6-phosphatase 2)
I41T (p.Ile41Thr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
I41T (p.Ile41Thr) variant details
- p.Ile41Thr
- gnomAD 2-168901453-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.56
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available