R30G (p.Arg30Gly) variant of POLH (DNA polymerase eta)
R30G (p.Arg30Gly) in POLH (DNA polymerase eta) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- ExAC rs760230871
- TOPMed rs760230871
- gnomAD rs760230871
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.42
- MetaSVM -0.09
- CADD 25.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available