S62R (p.Ser62Arg) variant of POLH (DNA polymerase eta)
S62R (p.Ser62Arg) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S62R (p.Ser62Arg) variant details
- p.Ser62Arg
- TOPMed rs1296758730
- gnomAD rs1296758730
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.64
- MetaLR 0.10
- MetaSVM -1.03
- CADD 20.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available