E22E (p.Glu22Glu) variant of POLH (DNA polymerase eta)
E22E (p.Glu22Glu) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E22E (p.Glu22Glu) variant details
- p.Glu22Glu
- gnomAD 6-43582385-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 4.64
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available