K40K (p.Lys40Lys) variant of POLH (DNA polymerase eta)
K40K (p.Lys40Lys) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K40K (p.Lys40Lys) variant details
- p.Lys40Lys
- gnomAD 6-43582439-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available