G12G (p.Gly12Gly) variant of POLD1 (P28340)
G12G (p.Gly12Gly) in POLD1 (P28340) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G12G (p.Gly12Gly) variant details
- p.Gly12Gly
- rs775717328
- gnomAD 19-50398887-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 8.10
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available