G44S (p.Gly44Ser) variant of POLH (DNA polymerase eta)
G44S (p.Gly44Ser) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G44S (p.Gly44Ser) variant details
- p.Gly44Ser
- gnomAD rs1362872500
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.48
- MetaSVM -0.19
- CADD 30.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available