Q5K (p.Gln5Lys) variant of POLH (DNA polymerase eta)
Q5K (p.Gln5Lys) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q5K (p.Gln5Lys) variant details
- p.Gln5Lys
- gnomAD 6-43582332-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.08
- ESM-1b 0.61
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.01
- CADD 18.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available