Q20K (p.Gln20Lys) variant of POLH (DNA polymerase eta)
Q20K (p.Gln20Lys) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Q20K (p.Gln20Lys) variant details
- p.Gln20Lys
- gnomAD rs1319648984
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.55
- MetaSVM 0.17
- CADD 25.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available