K70S (p.Lys70Ser) variant of POLH (DNA polymerase eta)
K70S (p.Lys70Ser) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K70S (p.Lys70Ser) variant details
- p.Lys70Ser
- rs1176350430
- gnomAD 6-43583075-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 31.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Literature evidence available