D34N (p.Asp34Asn) variant of G6PC2 (Glucose-6-phosphatase 2)
D34N (p.Asp34Asn) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- gnomAD 2-168901431-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.57
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available