G15W (p.Gly15Trp) variant of POLG (DNA polymerase subunit gamma-1)
G15W (p.Gly15Trp) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G15W (p.Gly15Trp) variant details
- p.Gly15Trp
- TOPMed rs1341432047
- gnomAD rs1341432047
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.31
- CADD 22.50
- PolyPhen-2 0.47
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available