K43K (p.Lys43Lys) variant of POLH (DNA polymerase eta)
K43K (p.Lys43Lys) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K43K (p.Lys43Lys) variant details
- p.Lys43Lys
- gnomAD 6-43582448-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 9.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available