V53A (p.Val53Ala) variant of G6PC2 (Glucose-6-phosphatase 2)
V53A (p.Val53Ala) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V53A (p.Val53Ala) variant details
- p.Val53Ala
- rs868267884
- ClinGen CA59845688
- ClinVar RCV004151200
- Ensembl rs868267884
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.38
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available