R7G (p.Arg7Gly) variant of POLH (DNA polymerase eta)
R7G (p.Arg7Gly) in POLH (DNA polymerase eta) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- TOPMed rs1422041536
- gnomAD rs1422041536
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.65
- MetaSVM 0.39
- CADD 25.80
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available