Q38Q (p.Gln38Gln) variant of POLH (DNA polymerase eta)
Q38Q (p.Gln38Gln) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q38Q (p.Gln38Gln) variant details
- p.Gln38Gln
- rs112203631
- gnomAD 6-43582433-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 9.49
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available